Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain
Identifieur interne : 001172 ( Ncbi/Curation ); précédent : 001171; suivant : 001173Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain
Auteurs : Partha Sen [États-Unis] ; Yaping Yang [États-Unis] ; Colby Navarro [États-Unis] ; Iris Silva [États-Unis] ; Przemyslaw Szafranski [États-Unis] ; Katarzyna E. Kolodziejska [États-Unis] ; Avinash V. Dharmadhikari [États-Unis] ; Hasnaa Mostafa [États-Unis] ; Harry Kozakewich [États-Unis] ; Debra Kearney [États-Unis] ; John B. Cahill [États-Unis] ; Merrissa Whitt [États-Unis] ; Masha Bilic [États-Unis] ; Linda Margraf [États-Unis] ; Adrian Charles [Australie] ; Jack Goldblatt [Australie] ; Kathleen Gibson [États-Unis] ; Patrick Lantz [États-Unis] ; Julian Garvin [États-Unis] ; John Petty [États-Unis] ; Zeina Kiblawi [États-Unis] ; Craig Zuppan [États-Unis] ; Allyn Mcconkie-Rosell [États-Unis] ; Marie T. Mcdonald [États-Unis] ; Stacey L. Peterson-Carmichael [États-Unis] ; Jane T. Gaede [États-Unis] ; Binoy Shivanna [États-Unis] ; Deborah Schady [États-Unis] ; Philippe S. Friedlich [États-Unis] ; Stephen R. Hays [États-Unis] ; Irene Valenzuela Palafoll [Espagne] ; Ulrike Siebers-Renelt [Allemagne] ; Axel Bohring [Allemagne] ; Laura S. Finn [États-Unis] ; Joseph R. Siebert [États-Unis] ; Csaba Galambos [États-Unis] ; Lananh Nguyen [États-Unis] ; Melissa Riley [États-Unis] ; Nicolas Chassaing [France] ; Adeline Vigouroux [France] ; Gustavo Rocha [Portugal] ; Susana Fernandes [Portugal] ; Jane Brumbaugh [États-Unis] ; Kari Roberts [États-Unis] ; Luk Ho-Ming [République populaire de Chine] ; Ivan Lo [République populaire de Chine] ; Stephen Lam [République populaire de Chine] ; Romana Gerychova [République tchèque] ; Marta Jezova [République tchèque] ; Iveta Valaskova [République tchèque] ; Florence Fellmann [Suisse] ; Katayoun Afshar [Suisse] ; Eric Giannoni [Suisse] ; Vincent Muhlethaler [Suisse] ; Jinlong Liang [République populaire de Chine] ; Jacques S. Beckmann [Suisse] ; Janet Lioy [États-Unis] ; Hitesh Deshmukh [États-Unis] ; Lakshmi Srinivasan [États-Unis] ; Daniel T. Swarr [États-Unis] ; Melissa Sloman [Royaume-Uni] ; Charles Shaw-Smith [Royaume-Uni] ; Rosa Laura Van Loon [Pays-Bas] ; Cecilia Hagman [Suède] ; Yves Sznajer [Belgique] ; Catherine Barrea [Belgique] ; Christine Galant [Belgique] ; Thierry Detaille [Belgique] ; Jennifer A. Wambach [États-Unis] ; F. Sessions Cole [États-Unis] ; Aaron Hamvas [États-Unis] ; Lawrence S. Prince [États-Unis] ; Karin E. M. Diderich [Pays-Bas] ; Alice S. Brooks [Pays-Bas] ; Rob M. Verdijk [Pays-Bas] ; Hari Ravindranathan [Australie] ; Ella Sugo [Australie] ; David Mowat [Australie] ; Michael L. Baker [États-Unis] ; Claire Langston [États-Unis] ; Stephen Welty [États-Unis] ; Pawel Stankiewicz [États-Unis]Source :
- Human mutation [ 1059-7794 ] ; 2013.
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and ten deletions, we have identified an additional thirty eight novel nonsynonymous mutations of
Url:
DOI: 10.1002/humu.22313
PubMed: 23505205
PubMed Central: 3663886
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel <italic>FOXF1</italic> mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain</title><author><name sortKey="Sen, Partha" sort="Sen, Partha" uniqKey="Sen P" first="Partha" last="Sen">Partha Sen</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Yang, Yaping" sort="Yang, Yaping" uniqKey="Yang Y" first="Yaping" last="Yang">Yaping Yang</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Navarro, Colby" sort="Navarro, Colby" uniqKey="Navarro C" first="Colby" last="Navarro">Colby Navarro</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Silva, Iris" sort="Silva, Iris" uniqKey="Silva I" first="Iris" last="Silva">Iris Silva</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Szafranski, Przemyslaw" sort="Szafranski, Przemyslaw" uniqKey="Szafranski P" first="Przemyslaw" last="Szafranski">Przemyslaw Szafranski</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Kolodziejska, Katarzyna E" sort="Kolodziejska, Katarzyna E" uniqKey="Kolodziejska K" first="Katarzyna E." last="Kolodziejska">Katarzyna E. Kolodziejska</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Dharmadhikari, Avinash V" sort="Dharmadhikari, Avinash V" uniqKey="Dharmadhikari A" first="Avinash V." last="Dharmadhikari">Avinash V. 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Cahill</name><affiliation wicri:level="2"><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Medical University of South Carolina, Charleston, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Whitt, Merrissa" sort="Whitt, Merrissa" uniqKey="Whitt M" first="Merrissa" last="Whitt">Merrissa Whitt</name><affiliation wicri:level="2"><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Medical University of South Carolina, Charleston, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Bilic, Masha" sort="Bilic, Masha" uniqKey="Bilic M" 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sortKey="Charles, Adrian" sort="Charles, Adrian" uniqKey="Charles A" first="Adrian" last="Charles">Adrian Charles</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name><affiliation wicri:level="1"><nlm:aff id="A9">Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Gibson, Kathleen" sort="Gibson, Kathleen" uniqKey="Gibson K" first="Kathleen" last="Gibson">Kathleen Gibson</name><affiliation wicri:level="2"><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Lantz, Patrick" sort="Lantz, Patrick" uniqKey="Lantz P" first="Patrick" last="Lantz">Patrick Lantz</name><affiliation wicri:level="2"><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Garvin, Julian" sort="Garvin, Julian" uniqKey="Garvin J" first="Julian" last="Garvin">Julian Garvin</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Petty, John" sort="Petty, John" uniqKey="Petty J" first="John" last="Petty">John Petty</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Kiblawi, Zeina" sort="Kiblawi, Zeina" uniqKey="Kiblawi Z" first="Zeina" last="Kiblawi">Zeina Kiblawi</name><affiliation wicri:level="2"><nlm:aff id="A12">Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Zuppan, Craig" sort="Zuppan, Craig" uniqKey="Zuppan C" first="Craig" last="Zuppan">Craig Zuppan</name><affiliation wicri:level="2"><nlm:aff id="A13">Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mcconkie Rosell, Allyn" sort="Mcconkie Rosell, Allyn" uniqKey="Mcconkie Rosell A" first="Allyn" last="Mcconkie-Rosell">Allyn Mcconkie-Rosell</name><affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Mcdonald, Marie T" sort="Mcdonald, Marie T" uniqKey="Mcdonald M" first="Marie T." last="Mcdonald">Marie T. Mcdonald</name><affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Peterson Carmichael, Stacey L" sort="Peterson Carmichael, Stacey L" uniqKey="Peterson Carmichael S" first="Stacey L." last="Peterson-Carmichael">Stacey L. Peterson-Carmichael</name><affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Gaede, Jane T" sort="Gaede, Jane T" uniqKey="Gaede J" first="Jane T." last="Gaede">Jane T. Gaede</name><affiliation wicri:level="2"><nlm:aff id="A15">Department of Pathology, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Shivanna, Binoy" sort="Shivanna, Binoy" uniqKey="Shivanna B" first="Binoy" last="Shivanna">Binoy Shivanna</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Schady, Deborah" sort="Schady, Deborah" uniqKey="Schady D" first="Deborah" last="Schady">Deborah Schady</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Friedlich, Philippe S" sort="Friedlich, Philippe S" uniqKey="Friedlich P" first="Philippe S." last="Friedlich">Philippe S. Friedlich</name><affiliation wicri:level="2"><nlm:aff id="A16">USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hays, Stephen R" sort="Hays, Stephen R" uniqKey="Hays S" first="Stephen R." last="Hays">Stephen R. Hays</name><affiliation wicri:level="2"><nlm:aff id="A17">Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Palafoll, Irene Valenzuela" sort="Palafoll, Irene Valenzuela" uniqKey="Palafoll I" first="Irene Valenzuela" last="Palafoll">Irene Valenzuela Palafoll</name><affiliation wicri:level="3"><nlm:aff id="A18">Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Siebers Renelt, Ulrike" sort="Siebers Renelt, Ulrike" uniqKey="Siebers Renelt U" first="Ulrike" last="Siebers-Renelt">Ulrike Siebers-Renelt</name><affiliation wicri:level="3"><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation wicri:level="3"><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Finn, Laura S" sort="Finn, Laura S" uniqKey="Finn L" first="Laura S." last="Finn">Laura S. Finn</name><affiliation wicri:level="4"><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region><settlement type="city">Seattle</settlement></placeName><orgName type="university">Université de Washington</orgName></affiliation></author><author><name sortKey="Siebert, Joseph R" sort="Siebert, Joseph R" uniqKey="Siebert J" first="Joseph R." last="Siebert">Joseph R. Siebert</name><affiliation wicri:level="4"><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region><settlement type="city">Seattle</settlement></placeName><orgName type="university">Université de Washington</orgName></affiliation></author><author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><affiliation wicri:level="4"><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Nguyen, Lananh" sort="Nguyen, Lananh" uniqKey="Nguyen L" first="Lananh" last="Nguyen">Lananh Nguyen</name><affiliation wicri:level="4"><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Riley, Melissa" sort="Riley, Melissa" uniqKey="Riley M" first="Melissa" last="Riley">Melissa Riley</name><affiliation wicri:level="4"><nlm:aff id="A22">Department of Pediatrics, University of Pittsburgh, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Chassaing, Nicolas" sort="Chassaing, Nicolas" uniqKey="Chassaing N" first="Nicolas" last="Chassaing">Nicolas Chassaing</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Rocha, Gustavo" sort="Rocha, Gustavo" uniqKey="Rocha G" first="Gustavo" last="Rocha">Gustavo Rocha</name><affiliation wicri:level="1"><nlm:aff id="A24">Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Pediatrics, Hospital de Sao Joao, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Fernandes, Susana" sort="Fernandes, Susana" uniqKey="Fernandes S" first="Susana" last="Fernandes">Susana Fernandes</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Genetics, Faculty of Medicine, Porto University, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Brumbaugh, Jane" sort="Brumbaugh, Jane" uniqKey="Brumbaugh J" first="Jane" last="Brumbaugh">Jane Brumbaugh</name><affiliation wicri:level="2"><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Minnesota, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Roberts, Kari" sort="Roberts, Kari" uniqKey="Roberts K" first="Kari" last="Roberts">Kari Roberts</name><affiliation wicri:level="2"><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Minnesota, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Ho Ming, Luk" sort="Ho Ming, Luk" uniqKey="Ho Ming L" first="Luk" last="Ho-Ming">Luk Ho-Ming</name><affiliation wicri:level="1"><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Clinical Genetic Service, Department of Health, Hong Kong SAR</wicri:regionArea><wicri:noRegion>Hong Kong SAR</wicri:noRegion></affiliation></author><author><name sortKey="Lo, Ivan" sort="Lo, Ivan" uniqKey="Lo I" first="Ivan" last="Lo">Ivan Lo</name><affiliation wicri:level="1"><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Clinical Genetic Service, Department of Health, Hong Kong SAR</wicri:regionArea><wicri:noRegion>Hong Kong SAR</wicri:noRegion></affiliation></author><author><name sortKey="Lam, Stephen" sort="Lam, Stephen" uniqKey="Lam S" first="Stephen" last="Lam">Stephen Lam</name><affiliation wicri:level="1"><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Clinical Genetic Service, Department of Health, Hong Kong SAR</wicri:regionArea><wicri:noRegion>Hong Kong SAR</wicri:noRegion></affiliation></author><author><name sortKey="Gerychova, Romana" sort="Gerychova, Romana" uniqKey="Gerychova R" first="Romana" last="Gerychova">Romana Gerychova</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Obstetrics and Gynecology, Masaryk University, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Jezova, Marta" sort="Jezova, Marta" uniqKey="Jezova M" first="Marta" last="Jezova">Marta Jezova</name><affiliation wicri:level="3"><nlm:aff id="A29">Department of Pathology, Masaryk University, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pathology, Masaryk University, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Valaskova, Iveta" sort="Valaskova, Iveta" uniqKey="Valaskova I" first="Iveta" last="Valaskova">Iveta Valaskova</name><affiliation wicri:level="3"><nlm:aff id="A30">Department of Medical Genetics, Masaryk University, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Medical Genetics, Masaryk University, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Fellmann, Florence" sort="Fellmann, Florence" uniqKey="Fellmann F" first="Florence" last="Fellmann">Florence Fellmann</name><affiliation wicri:level="3"><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Afshar, Katayoun" sort="Afshar, Katayoun" uniqKey="Afshar K" first="Katayoun" last="Afshar">Katayoun Afshar</name><affiliation wicri:level="3"><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Giannoni, Eric" sort="Giannoni, Eric" uniqKey="Giannoni E" first="Eric" last="Giannoni">Eric Giannoni</name><affiliation wicri:level="3"><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Neonatology Service, Lausanne University Hospital, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Muhlethaler, Vincent" sort="Muhlethaler, Vincent" uniqKey="Muhlethaler V" first="Vincent" last="Muhlethaler">Vincent Muhlethaler</name><affiliation wicri:level="3"><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Neonatology Service, Lausanne University Hospital, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Liang, Jinlong" sort="Liang, Jinlong" uniqKey="Liang J" first="Jinlong" last="Liang">Jinlong Liang</name><affiliation wicri:level="3"><nlm:aff id="A33">BGI-BGI Research, Shenzhen, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>BGI-BGI Research, Shenzhen</wicri:regionArea><placeName><settlement type="city">Shenzhen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Beckmann, Jacques S" sort="Beckmann, Jacques S" uniqKey="Beckmann J" first="Jacques S." last="Beckmann">Jacques S. Beckmann</name><affiliation wicri:level="3"><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A34">Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Medical Genetics, University of Lausanne, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Lioy, Janet" sort="Lioy, Janet" uniqKey="Lioy J" first="Janet" last="Lioy">Janet Lioy</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Deshmukh, Hitesh" sort="Deshmukh, Hitesh" uniqKey="Deshmukh H" first="Hitesh" last="Deshmukh">Hitesh Deshmukh</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Srinivasan, Lakshmi" sort="Srinivasan, Lakshmi" uniqKey="Srinivasan L" first="Lakshmi" last="Srinivasan">Lakshmi Srinivasan</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Swarr, Daniel T" sort="Swarr, Daniel T" uniqKey="Swarr D" first="Daniel T." last="Swarr">Daniel T. Swarr</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Sloman, Melissa" sort="Sloman, Melissa" uniqKey="Sloman M" first="Melissa" last="Sloman">Melissa Sloman</name><affiliation wicri:level="1"><nlm:aff id="A36">Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Shaw Smith, Charles" sort="Shaw Smith, Charles" uniqKey="Shaw Smith C" first="Charles" last="Shaw-Smith">Charles Shaw-Smith</name><affiliation wicri:level="1"><nlm:aff id="A37">Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Van Loon, Rosa Laura" sort="Van Loon, Rosa Laura" uniqKey="Van Loon R" first="Rosa Laura" last="Van Loon">Rosa Laura Van Loon</name><affiliation wicri:level="3"><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hagman, Cecilia" sort="Hagman, Cecilia" uniqKey="Hagman C" first="Cecilia" last="Hagman">Cecilia Hagman</name><affiliation wicri:level="1"><nlm:aff id="A39">Department of Neonatology, Skane University Hospital, Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neonatology, Skane University Hospital, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name><affiliation wicri:level="3"><nlm:aff id="A40">Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Barrea, Catherine" sort="Barrea, Catherine" uniqKey="Barrea C" first="Catherine" last="Barrea">Catherine Barrea</name><affiliation wicri:level="3"><nlm:aff id="A41">Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Galant, Christine" sort="Galant, Christine" uniqKey="Galant C" first="Christine" last="Galant">Christine Galant</name><affiliation wicri:level="3"><nlm:aff id="A42">Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Detaille, Thierry" sort="Detaille, Thierry" uniqKey="Detaille T" first="Thierry" last="Detaille">Thierry Detaille</name><affiliation wicri:level="3"><nlm:aff id="A43">Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Wambach, Jennifer A" sort="Wambach, Jennifer A" uniqKey="Wambach J" first="Jennifer A." last="Wambach">Jennifer A. Wambach</name><affiliation wicri:level="4"><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Cole, F Sessions" sort="Cole, F Sessions" uniqKey="Cole F" first="F. Sessions" last="Cole">F. Sessions Cole</name><affiliation wicri:level="4"><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name><affiliation wicri:level="4"><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Prince, Lawrence S" sort="Prince, Lawrence S" uniqKey="Prince L" first="Lawrence S." last="Prince">Lawrence S. Prince</name><affiliation wicri:level="2"><nlm:aff id="A45">Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Diderich, Karin E M" sort="Diderich, Karin E M" uniqKey="Diderich K" first="Karin E. M." last="Diderich">Karin E. M. Diderich</name><affiliation wicri:level="3"><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Brooks, Alice S" sort="Brooks, Alice S" uniqKey="Brooks A" first="Alice S." last="Brooks">Alice S. Brooks</name><affiliation wicri:level="3"><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Verdijk, Rob M" sort="Verdijk, Rob M" uniqKey="Verdijk R" first="Rob M." last="Verdijk">Rob M. Verdijk</name><affiliation wicri:level="3"><nlm:aff id="A46">Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Ravindranathan, Hari" sort="Ravindranathan, Hari" uniqKey="Ravindranathan H" first="Hari" last="Ravindranathan">Hari Ravindranathan</name><affiliation wicri:level="2"><nlm:aff id="A47">Children’s Intensive Care, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Children’s Intensive Care, The University of NSW, Sydney</wicri:cityArea></affiliation></author><author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name><affiliation wicri:level="2"><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Anatomical Pathology, The University of NSW, Sydney</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A50">Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney</wicri:cityArea></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation wicri:level="2"><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Anatomical Pathology, The University of NSW, Sydney</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A51">School of Women’s and Children’s health, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>School of Women’s and Children’s health, The University of NSW, Sydney</wicri:cityArea></affiliation></author><author><name sortKey="Baker, Michael L" sort="Baker, Michael L" uniqKey="Baker M" first="Michael L." last="Baker">Michael L. Baker</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Welty, Stephen" sort="Welty, Stephen" uniqKey="Welty S" first="Stephen" last="Welty">Stephen Welty</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23505205</idno><idno type="pmc">3663886</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886</idno><idno type="RBID">PMC:3663886</idno><idno type="doi">10.1002/humu.22313</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">002116</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002116</idno><idno type="wicri:Area/Pmc/Curation">001F70</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001F70</idno><idno type="wicri:Area/Pmc/Checkpoint">001978</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001978</idno><idno type="wicri:Area/Ncbi/Merge">001172</idno><idno type="wicri:Area/Ncbi/Curation">001172</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Novel <italic>FOXF1</italic> mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain</title><author><name sortKey="Sen, Partha" sort="Sen, Partha" uniqKey="Sen P" first="Partha" last="Sen">Partha Sen</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Yang, Yaping" sort="Yang, Yaping" uniqKey="Yang Y" first="Yaping" last="Yang">Yaping Yang</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Navarro, Colby" sort="Navarro, Colby" uniqKey="Navarro C" first="Colby" last="Navarro">Colby Navarro</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Silva, Iris" sort="Silva, Iris" uniqKey="Silva I" first="Iris" last="Silva">Iris Silva</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Szafranski, Przemyslaw" sort="Szafranski, Przemyslaw" uniqKey="Szafranski P" first="Przemyslaw" last="Szafranski">Przemyslaw Szafranski</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Kolodziejska, Katarzyna E" sort="Kolodziejska, Katarzyna E" uniqKey="Kolodziejska K" first="Katarzyna E." last="Kolodziejska">Katarzyna E. Kolodziejska</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Dharmadhikari, Avinash V" sort="Dharmadhikari, Avinash V" uniqKey="Dharmadhikari A" first="Avinash V." last="Dharmadhikari">Avinash V. Dharmadhikari</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Mostafa, Hasnaa" sort="Mostafa, Hasnaa" uniqKey="Mostafa H" first="Hasnaa" last="Mostafa">Hasnaa Mostafa</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Kozakewich, Harry" sort="Kozakewich, Harry" uniqKey="Kozakewich H" first="Harry" last="Kozakewich">Harry Kozakewich</name><affiliation wicri:level="2"><nlm:aff id="A3">Department of Pathology, Children’s Hospital Boston, Boston, MA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Children’s Hospital Boston, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Kearney, Debra" sort="Kearney, Debra" uniqKey="Kearney D" first="Debra" last="Kearney">Debra Kearney</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Cahill, John B" sort="Cahill, John B" uniqKey="Cahill J" first="John B." last="Cahill">John B. Cahill</name><affiliation wicri:level="2"><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Medical University of South Carolina, Charleston, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Whitt, Merrissa" sort="Whitt, Merrissa" uniqKey="Whitt M" first="Merrissa" last="Whitt">Merrissa Whitt</name><affiliation wicri:level="2"><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Medical University of South Carolina, Charleston, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Bilic, Masha" sort="Bilic, Masha" uniqKey="Bilic M" first="Masha" last="Bilic">Masha Bilic</name><affiliation wicri:level="2"><nlm:aff id="A6">Department of Pathology and Lab Medicine, Medical University of South Carolina, Charleston, SC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology and Lab Medicine, Medical University of South Carolina, Charleston, SC</wicri:regionArea><placeName><region type="state">Caroline du Sud</region></placeName></affiliation></author><author><name sortKey="Margraf, Linda" sort="Margraf, Linda" uniqKey="Margraf L" first="Linda" last="Margraf">Linda Margraf</name><affiliation wicri:level="2"><nlm:aff id="A7">Department of Pathology, University of Texas Southwestern Medical School, Dallas, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Texas Southwestern Medical School, Dallas, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Charles, Adrian" sort="Charles, Adrian" uniqKey="Charles A" first="Adrian" last="Charles">Adrian Charles</name><affiliation wicri:level="1"><nlm:aff id="A8">Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name><affiliation wicri:level="1"><nlm:aff id="A9">Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Gibson, Kathleen" sort="Gibson, Kathleen" uniqKey="Gibson K" first="Kathleen" last="Gibson">Kathleen Gibson</name><affiliation wicri:level="2"><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Lantz, Patrick" sort="Lantz, Patrick" uniqKey="Lantz P" first="Patrick" last="Lantz">Patrick Lantz</name><affiliation wicri:level="2"><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Garvin, Julian" sort="Garvin, Julian" uniqKey="Garvin J" first="Julian" last="Garvin">Julian Garvin</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Petty, John" sort="Petty, John" uniqKey="Petty J" first="John" last="Petty">John Petty</name><affiliation wicri:level="2"><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Kiblawi, Zeina" sort="Kiblawi, Zeina" uniqKey="Kiblawi Z" first="Zeina" last="Kiblawi">Zeina Kiblawi</name><affiliation wicri:level="2"><nlm:aff id="A12">Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Zuppan, Craig" sort="Zuppan, Craig" uniqKey="Zuppan C" first="Craig" last="Zuppan">Craig Zuppan</name><affiliation wicri:level="2"><nlm:aff id="A13">Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mcconkie Rosell, Allyn" sort="Mcconkie Rosell, Allyn" uniqKey="Mcconkie Rosell A" first="Allyn" last="Mcconkie-Rosell">Allyn Mcconkie-Rosell</name><affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Mcdonald, Marie T" sort="Mcdonald, Marie T" uniqKey="Mcdonald M" first="Marie T." last="Mcdonald">Marie T. Mcdonald</name><affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Peterson Carmichael, Stacey L" sort="Peterson Carmichael, Stacey L" uniqKey="Peterson Carmichael S" first="Stacey L." last="Peterson-Carmichael">Stacey L. Peterson-Carmichael</name><affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Gaede, Jane T" sort="Gaede, Jane T" uniqKey="Gaede J" first="Jane T." last="Gaede">Jane T. Gaede</name><affiliation wicri:level="2"><nlm:aff id="A15">Department of Pathology, Duke University Medical Center, Durham, NC, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Duke University Medical Center, Durham, NC</wicri:regionArea><placeName><region type="state">Caroline du Nord</region></placeName></affiliation></author><author><name sortKey="Shivanna, Binoy" sort="Shivanna, Binoy" uniqKey="Shivanna B" first="Binoy" last="Shivanna">Binoy Shivanna</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Schady, Deborah" sort="Schady, Deborah" uniqKey="Schady D" first="Deborah" last="Schady">Deborah Schady</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Friedlich, Philippe S" sort="Friedlich, Philippe S" uniqKey="Friedlich P" first="Philippe S." last="Friedlich">Philippe S. Friedlich</name><affiliation wicri:level="2"><nlm:aff id="A16">USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Hays, Stephen R" sort="Hays, Stephen R" uniqKey="Hays S" first="Stephen R." last="Hays">Stephen R. Hays</name><affiliation wicri:level="2"><nlm:aff id="A17">Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Palafoll, Irene Valenzuela" sort="Palafoll, Irene Valenzuela" uniqKey="Palafoll I" first="Irene Valenzuela" last="Palafoll">Irene Valenzuela Palafoll</name><affiliation wicri:level="3"><nlm:aff id="A18">Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona, Spain</nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Siebers Renelt, Ulrike" sort="Siebers Renelt, Ulrike" uniqKey="Siebers Renelt U" first="Ulrike" last="Siebers-Renelt">Ulrike Siebers-Renelt</name><affiliation wicri:level="3"><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation wicri:level="3"><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Münster</region><settlement type="city">Münster</settlement></placeName></affiliation></author><author><name sortKey="Finn, Laura S" sort="Finn, Laura S" uniqKey="Finn L" first="Laura S." last="Finn">Laura S. Finn</name><affiliation wicri:level="4"><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region><settlement type="city">Seattle</settlement></placeName><orgName type="university">Université de Washington</orgName></affiliation></author><author><name sortKey="Siebert, Joseph R" sort="Siebert, Joseph R" uniqKey="Siebert J" first="Joseph R." last="Siebert">Joseph R. Siebert</name><affiliation wicri:level="4"><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA</wicri:regionArea><placeName><region type="state">Washington (État)</region><settlement type="city">Seattle</settlement></placeName><orgName type="university">Université de Washington</orgName></affiliation></author><author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><affiliation wicri:level="4"><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Nguyen, Lananh" sort="Nguyen, Lananh" uniqKey="Nguyen L" first="Lananh" last="Nguyen">Lananh Nguyen</name><affiliation wicri:level="4"><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, University of Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Riley, Melissa" sort="Riley, Melissa" uniqKey="Riley M" first="Melissa" last="Riley">Melissa Riley</name><affiliation wicri:level="4"><nlm:aff id="A22">Department of Pediatrics, University of Pittsburgh, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Pittsburgh, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region><settlement type="city">Pittsburgh</settlement></placeName><orgName type="university">Université de Pittsburgh</orgName></affiliation></author><author><name sortKey="Chassaing, Nicolas" sort="Chassaing, Nicolas" uniqKey="Chassaing N" first="Nicolas" last="Chassaing">Nicolas Chassaing</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name><affiliation wicri:level="3"><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Rocha, Gustavo" sort="Rocha, Gustavo" uniqKey="Rocha G" first="Gustavo" last="Rocha">Gustavo Rocha</name><affiliation wicri:level="1"><nlm:aff id="A24">Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Pediatrics, Hospital de Sao Joao, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Fernandes, Susana" sort="Fernandes, Susana" uniqKey="Fernandes S" first="Susana" last="Fernandes">Susana Fernandes</name><affiliation wicri:level="1"><nlm:aff id="A25">Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</nlm:aff><country xml:lang="fr">Portugal</country><wicri:regionArea>Department of Genetics, Faculty of Medicine, Porto University, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Brumbaugh, Jane" sort="Brumbaugh, Jane" uniqKey="Brumbaugh J" first="Jane" last="Brumbaugh">Jane Brumbaugh</name><affiliation wicri:level="2"><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Minnesota, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Roberts, Kari" sort="Roberts, Kari" uniqKey="Roberts K" first="Kari" last="Roberts">Kari Roberts</name><affiliation wicri:level="2"><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Minnesota, MN</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Ho Ming, Luk" sort="Ho Ming, Luk" uniqKey="Ho Ming L" first="Luk" last="Ho-Ming">Luk Ho-Ming</name><affiliation wicri:level="1"><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Clinical Genetic Service, Department of Health, Hong Kong SAR</wicri:regionArea><wicri:noRegion>Hong Kong SAR</wicri:noRegion></affiliation></author><author><name sortKey="Lo, Ivan" sort="Lo, Ivan" uniqKey="Lo I" first="Ivan" last="Lo">Ivan Lo</name><affiliation wicri:level="1"><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Clinical Genetic Service, Department of Health, Hong Kong SAR</wicri:regionArea><wicri:noRegion>Hong Kong SAR</wicri:noRegion></affiliation></author><author><name sortKey="Lam, Stephen" sort="Lam, Stephen" uniqKey="Lam S" first="Stephen" last="Lam">Stephen Lam</name><affiliation wicri:level="1"><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Clinical Genetic Service, Department of Health, Hong Kong SAR</wicri:regionArea><wicri:noRegion>Hong Kong SAR</wicri:noRegion></affiliation></author><author><name sortKey="Gerychova, Romana" sort="Gerychova, Romana" uniqKey="Gerychova R" first="Romana" last="Gerychova">Romana Gerychova</name><affiliation wicri:level="3"><nlm:aff id="A28">Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Obstetrics and Gynecology, Masaryk University, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Jezova, Marta" sort="Jezova, Marta" uniqKey="Jezova M" first="Marta" last="Jezova">Marta Jezova</name><affiliation wicri:level="3"><nlm:aff id="A29">Department of Pathology, Masaryk University, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Pathology, Masaryk University, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Valaskova, Iveta" sort="Valaskova, Iveta" uniqKey="Valaskova I" first="Iveta" last="Valaskova">Iveta Valaskova</name><affiliation wicri:level="3"><nlm:aff id="A30">Department of Medical Genetics, Masaryk University, Brno, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Medical Genetics, Masaryk University, Brno</wicri:regionArea><placeName><settlement type="city">Brno</settlement><region>Moravie</region></placeName></affiliation></author><author><name sortKey="Fellmann, Florence" sort="Fellmann, Florence" uniqKey="Fellmann F" first="Florence" last="Fellmann">Florence Fellmann</name><affiliation wicri:level="3"><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Afshar, Katayoun" sort="Afshar, Katayoun" uniqKey="Afshar K" first="Katayoun" last="Afshar">Katayoun Afshar</name><affiliation wicri:level="3"><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Giannoni, Eric" sort="Giannoni, Eric" uniqKey="Giannoni E" first="Eric" last="Giannoni">Eric Giannoni</name><affiliation wicri:level="3"><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Neonatology Service, Lausanne University Hospital, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Muhlethaler, Vincent" sort="Muhlethaler, Vincent" uniqKey="Muhlethaler V" first="Vincent" last="Muhlethaler">Vincent Muhlethaler</name><affiliation wicri:level="3"><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Neonatology Service, Lausanne University Hospital, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Liang, Jinlong" sort="Liang, Jinlong" uniqKey="Liang J" first="Jinlong" last="Liang">Jinlong Liang</name><affiliation wicri:level="3"><nlm:aff id="A33">BGI-BGI Research, Shenzhen, China</nlm:aff><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>BGI-BGI Research, Shenzhen</wicri:regionArea><placeName><settlement type="city">Shenzhen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Beckmann, Jacques S" sort="Beckmann, Jacques S" uniqKey="Beckmann J" first="Jacques S." last="Beckmann">Jacques S. Beckmann</name><affiliation wicri:level="3"><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="A34">Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Medical Genetics, University of Lausanne, Lausanne</wicri:regionArea><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Lioy, Janet" sort="Lioy, Janet" uniqKey="Lioy J" first="Janet" last="Lioy">Janet Lioy</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Deshmukh, Hitesh" sort="Deshmukh, Hitesh" uniqKey="Deshmukh H" first="Hitesh" last="Deshmukh">Hitesh Deshmukh</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Srinivasan, Lakshmi" sort="Srinivasan, Lakshmi" uniqKey="Srinivasan L" first="Lakshmi" last="Srinivasan">Lakshmi Srinivasan</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Swarr, Daniel T" sort="Swarr, Daniel T" uniqKey="Swarr D" first="Daniel T." last="Swarr">Daniel T. Swarr</name><affiliation wicri:level="2"><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Sloman, Melissa" sort="Sloman, Melissa" uniqKey="Sloman M" first="Melissa" last="Sloman">Melissa Sloman</name><affiliation wicri:level="1"><nlm:aff id="A36">Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Shaw Smith, Charles" sort="Shaw Smith, Charles" uniqKey="Shaw Smith C" first="Charles" last="Shaw-Smith">Charles Shaw-Smith</name><affiliation wicri:level="1"><nlm:aff id="A37">Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea><wicri:noRegion>Exeter</wicri:noRegion></affiliation></author><author><name sortKey="Van Loon, Rosa Laura" sort="Van Loon, Rosa Laura" uniqKey="Van Loon R" first="Rosa Laura" last="Van Loon">Rosa Laura Van Loon</name><affiliation wicri:level="3"><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hagman, Cecilia" sort="Hagman, Cecilia" uniqKey="Hagman C" first="Cecilia" last="Hagman">Cecilia Hagman</name><affiliation wicri:level="1"><nlm:aff id="A39">Department of Neonatology, Skane University Hospital, Lund, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neonatology, Skane University Hospital, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name><affiliation wicri:level="3"><nlm:aff id="A40">Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Barrea, Catherine" sort="Barrea, Catherine" uniqKey="Barrea C" first="Catherine" last="Barrea">Catherine Barrea</name><affiliation wicri:level="3"><nlm:aff id="A41">Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Galant, Christine" sort="Galant, Christine" uniqKey="Galant C" first="Christine" last="Galant">Christine Galant</name><affiliation wicri:level="3"><nlm:aff id="A42">Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Detaille, Thierry" sort="Detaille, Thierry" uniqKey="Detaille T" first="Thierry" last="Detaille">Thierry Detaille</name><affiliation wicri:level="3"><nlm:aff id="A43">Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Wambach, Jennifer A" sort="Wambach, Jennifer A" uniqKey="Wambach J" first="Jennifer A." last="Wambach">Jennifer A. Wambach</name><affiliation wicri:level="4"><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Cole, F Sessions" sort="Cole, F Sessions" uniqKey="Cole F" first="F. Sessions" last="Cole">F. Sessions Cole</name><affiliation wicri:level="4"><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name><affiliation wicri:level="4"><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO</wicri:regionArea><placeName><region type="state">Missouri (État)</region><settlement type="city">Saint-Louis (Missouri)</settlement></placeName><orgName type="university">École de médecine (Université Washington de Saint-Louis)</orgName></affiliation></author><author><name sortKey="Prince, Lawrence S" sort="Prince, Lawrence S" uniqKey="Prince L" first="Lawrence S." last="Prince">Lawrence S. Prince</name><affiliation wicri:level="2"><nlm:aff id="A45">Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN</wicri:regionArea><placeName><region type="state">Tennessee</region></placeName></affiliation></author><author><name sortKey="Diderich, Karin E M" sort="Diderich, Karin E M" uniqKey="Diderich K" first="Karin E. M." last="Diderich">Karin E. M. Diderich</name><affiliation wicri:level="3"><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Brooks, Alice S" sort="Brooks, Alice S" uniqKey="Brooks A" first="Alice S." last="Brooks">Alice S. Brooks</name><affiliation wicri:level="3"><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Verdijk, Rob M" sort="Verdijk, Rob M" uniqKey="Verdijk R" first="Rob M." last="Verdijk">Rob M. Verdijk</name><affiliation wicri:level="3"><nlm:aff id="A46">Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pathology, Erasmus Medical Center, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Ravindranathan, Hari" sort="Ravindranathan, Hari" uniqKey="Ravindranathan H" first="Hari" last="Ravindranathan">Hari Ravindranathan</name><affiliation wicri:level="2"><nlm:aff id="A47">Children’s Intensive Care, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Children’s Intensive Care, The University of NSW, Sydney</wicri:cityArea></affiliation></author><author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name><affiliation wicri:level="2"><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Anatomical Pathology, The University of NSW, Sydney</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A50">Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney</wicri:cityArea></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation wicri:level="2"><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Anatomical Pathology, The University of NSW, Sydney</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="A51">School of Women’s and Children’s health, The University of NSW, Sydney, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>School of Women’s and Children’s health, The University of NSW, Sydney</wicri:cityArea></affiliation></author><author><name sortKey="Baker, Michael L" sort="Baker, Michael L" uniqKey="Baker M" first="Michael L." last="Baker">Michael L. Baker</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name><affiliation wicri:level="2"><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, Texas Children’s Hospital, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Welty, Stephen" sort="Welty, Stephen" uniqKey="Welty S" first="Stephen" last="Welty">Stephen Welty</name><affiliation wicri:level="2"><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name><affiliation wicri:level="2"><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Non-pulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and ten deletions, we have identified an additional thirty eight novel nonsynonymous mutations of <italic>FOXF1</italic> (nine nonsense, seven frameshift, one inframe deletion, twenty missense, and one no stop). This report represents an up to date list of all known <italic>FOXF1</italic> mutations to the best of our knowledge. Majority of the cases are sporadic whereas four familial cases with three showing maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA binding domain, indicating its plausible role in gene regulation. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to <italic>FOXF1</italic>. These results corroborate and extend our previous observations and further establish involvement of <italic>FOXF1</italic> in ACD/MPV and lung organogenesis.</p></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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