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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><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Yang, Yaping" sort="Yang, Yaping" uniqKey="Yang Y" first="Yaping" last="Yang">Yaping Yang</name><affiliation><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Navarro, Colby" sort="Navarro, Colby" uniqKey="Navarro C" first="Colby" last="Navarro">Colby Navarro</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Silva, Iris" sort="Silva, Iris" uniqKey="Silva I" first="Iris" last="Silva">Iris Silva</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Szafranski, Przemyslaw" sort="Szafranski, Przemyslaw" uniqKey="Szafranski P" first="Przemyslaw" last="Szafranski">Przemyslaw Szafranski</name><affiliation><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></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><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></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><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Mostafa, Hasnaa" sort="Mostafa, Hasnaa" uniqKey="Mostafa H" first="Hasnaa" last="Mostafa">Hasnaa Mostafa</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Kozakewich, Harry" sort="Kozakewich, Harry" uniqKey="Kozakewich H" first="Harry" last="Kozakewich">Harry Kozakewich</name><affiliation><nlm:aff id="A3">Department of Pathology, Children’s Hospital Boston, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Kearney, Debra" sort="Kearney, Debra" uniqKey="Kearney D" first="Debra" last="Kearney">Debra Kearney</name><affiliation><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></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><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff></affiliation></author><author><name sortKey="Whitt, Merrissa" sort="Whitt, Merrissa" uniqKey="Whitt M" first="Merrissa" last="Whitt">Merrissa Whitt</name><affiliation><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff></affiliation></author><author><name sortKey="Bilic, Masha" sort="Bilic, Masha" uniqKey="Bilic M" first="Masha" last="Bilic">Masha Bilic</name><affiliation><nlm:aff id="A6">Department of Pathology and Lab Medicine, Medical University of South Carolina, Charleston, SC, USA</nlm:aff></affiliation></author><author><name sortKey="Margraf, Linda" sort="Margraf, Linda" uniqKey="Margraf L" first="Linda" last="Margraf">Linda Margraf</name><affiliation><nlm:aff id="A7">Department of Pathology, University of Texas Southwestern Medical School, Dallas, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Charles, Adrian" sort="Charles, Adrian" uniqKey="Charles A" first="Adrian" last="Charles">Adrian Charles</name><affiliation><nlm:aff id="A8">Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</nlm:aff></affiliation></author><author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name><affiliation><nlm:aff id="A9">Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</nlm:aff></affiliation></author><author><name sortKey="Gibson, Kathleen" sort="Gibson, Kathleen" uniqKey="Gibson K" first="Kathleen" last="Gibson">Kathleen Gibson</name><affiliation><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Lantz, Patrick" sort="Lantz, Patrick" uniqKey="Lantz P" first="Patrick" last="Lantz">Patrick Lantz</name><affiliation><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Garvin, Julian" sort="Garvin, Julian" uniqKey="Garvin J" first="Julian" last="Garvin">Julian Garvin</name><affiliation><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Petty, John" sort="Petty, John" uniqKey="Petty J" first="John" last="Petty">John Petty</name><affiliation><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Kiblawi, Zeina" sort="Kiblawi, Zeina" uniqKey="Kiblawi Z" first="Zeina" last="Kiblawi">Zeina Kiblawi</name><affiliation><nlm:aff id="A12">Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Zuppan, Craig" sort="Zuppan, Craig" uniqKey="Zuppan C" first="Craig" last="Zuppan">Craig Zuppan</name><affiliation><nlm:aff id="A13">Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA, USA</nlm:aff></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><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff></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><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff></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><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff></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><nlm:aff id="A15">Department of Pathology, Duke University Medical Center, Durham, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Shivanna, Binoy" sort="Shivanna, Binoy" uniqKey="Shivanna B" first="Binoy" last="Shivanna">Binoy Shivanna</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Schady, Deborah" sort="Schady, Deborah" uniqKey="Schady D" first="Deborah" last="Schady">Deborah Schady</name><affiliation><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></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><nlm:aff id="A16">USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA, USA</nlm:aff></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><nlm:aff id="A17">Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff></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><nlm:aff id="A18">Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona, Spain</nlm:aff></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><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff></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><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff></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><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff></affiliation></author><author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><affiliation><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Nguyen, Lananh" sort="Nguyen, Lananh" uniqKey="Nguyen L" first="Lananh" last="Nguyen">Lananh Nguyen</name><affiliation><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Riley, Melissa" sort="Riley, Melissa" uniqKey="Riley M" first="Melissa" last="Riley">Melissa Riley</name><affiliation><nlm:aff id="A22">Department of Pediatrics, University of Pittsburgh, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Chassaing, Nicolas" sort="Chassaing, Nicolas" uniqKey="Chassaing N" first="Nicolas" last="Chassaing">Nicolas Chassaing</name><affiliation><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name><affiliation><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Rocha, Gustavo" sort="Rocha, Gustavo" uniqKey="Rocha G" first="Gustavo" last="Rocha">Gustavo Rocha</name><affiliation><nlm:aff id="A24">Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Fernandes, Susana" sort="Fernandes, Susana" uniqKey="Fernandes S" first="Susana" last="Fernandes">Susana Fernandes</name><affiliation><nlm:aff id="A25">Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Brumbaugh, Jane" sort="Brumbaugh, Jane" uniqKey="Brumbaugh J" first="Jane" last="Brumbaugh">Jane Brumbaugh</name><affiliation><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Roberts, Kari" sort="Roberts, Kari" uniqKey="Roberts K" first="Kari" last="Roberts">Kari Roberts</name><affiliation><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff></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><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff></affiliation></author><author><name sortKey="Lo, Ivan" sort="Lo, Ivan" uniqKey="Lo I" first="Ivan" last="Lo">Ivan Lo</name><affiliation><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff></affiliation></author><author><name sortKey="Lam, Stephen" sort="Lam, Stephen" uniqKey="Lam S" first="Stephen" last="Lam">Stephen Lam</name><affiliation><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff></affiliation></author><author><name sortKey="Gerychova, Romana" sort="Gerychova, Romana" uniqKey="Gerychova R" first="Romana" last="Gerychova">Romana Gerychova</name><affiliation><nlm:aff id="A28">Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Jezova, Marta" sort="Jezova, Marta" uniqKey="Jezova M" first="Marta" last="Jezova">Marta Jezova</name><affiliation><nlm:aff id="A29">Department of Pathology, Masaryk University, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Valaskova, Iveta" sort="Valaskova, Iveta" uniqKey="Valaskova I" first="Iveta" last="Valaskova">Iveta Valaskova</name><affiliation><nlm:aff id="A30">Department of Medical Genetics, Masaryk University, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Fellmann, Florence" sort="Fellmann, Florence" uniqKey="Fellmann F" first="Florence" last="Fellmann">Florence Fellmann</name><affiliation><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Afshar, Katayoun" sort="Afshar, Katayoun" uniqKey="Afshar K" first="Katayoun" last="Afshar">Katayoun Afshar</name><affiliation><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Giannoni, Eric" sort="Giannoni, Eric" uniqKey="Giannoni E" first="Eric" last="Giannoni">Eric Giannoni</name><affiliation><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Muhlethaler, Vincent" sort="Muhlethaler, Vincent" uniqKey="Muhlethaler V" first="Vincent" last="Muhlethaler">Vincent Muhlethaler</name><affiliation><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Liang, Jinlong" sort="Liang, Jinlong" uniqKey="Liang J" first="Jinlong" last="Liang">Jinlong Liang</name><affiliation><nlm:aff id="A33">BGI-BGI Research, Shenzhen, China</nlm:aff></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><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Lioy, Janet" sort="Lioy, Janet" uniqKey="Lioy J" first="Janet" last="Lioy">Janet Lioy</name><affiliation><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Deshmukh, Hitesh" sort="Deshmukh, Hitesh" uniqKey="Deshmukh H" first="Hitesh" last="Deshmukh">Hitesh Deshmukh</name><affiliation><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Srinivasan, Lakshmi" sort="Srinivasan, Lakshmi" uniqKey="Srinivasan L" first="Lakshmi" last="Srinivasan">Lakshmi Srinivasan</name><affiliation><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></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><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Sloman, Melissa" sort="Sloman, Melissa" uniqKey="Sloman M" first="Melissa" last="Sloman">Melissa Sloman</name><affiliation><nlm:aff id="A36">Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff></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><nlm:aff id="A37">Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff></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><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hagman, Cecilia" sort="Hagman, Cecilia" uniqKey="Hagman C" first="Cecilia" last="Hagman">Cecilia Hagman</name><affiliation><nlm:aff id="A39">Department of Neonatology, Skane University Hospital, Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name><affiliation><nlm:aff id="A40">Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Barrea, Catherine" sort="Barrea, Catherine" uniqKey="Barrea C" first="Catherine" last="Barrea">Catherine Barrea</name><affiliation><nlm:aff id="A41">Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Galant, Christine" sort="Galant, Christine" uniqKey="Galant C" first="Christine" last="Galant">Christine Galant</name><affiliation><nlm:aff id="A42">Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Detaille, Thierry" sort="Detaille, Thierry" uniqKey="Detaille T" first="Thierry" last="Detaille">Thierry Detaille</name><affiliation><nlm:aff id="A43">Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></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><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></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><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name><affiliation><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></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><nlm:aff id="A45">Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff></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><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></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><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></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><nlm:aff id="A46">Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ravindranathan, Hari" sort="Ravindranathan, Hari" uniqKey="Ravindranathan H" first="Hari" last="Ravindranathan">Hari Ravindranathan</name><affiliation><nlm:aff id="A47">Children’s Intensive Care, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation></author><author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name><affiliation><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A51">School of Women’s and Children’s health, The University of NSW, Sydney, NSW Australia</nlm:aff></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><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name><affiliation><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Welty, Stephen" sort="Welty, Stephen" uniqKey="Welty S" first="Stephen" last="Welty">Stephen Welty</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name><affiliation><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></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></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><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Yang, Yaping" sort="Yang, Yaping" uniqKey="Yang Y" first="Yaping" last="Yang">Yaping Yang</name><affiliation><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Navarro, Colby" sort="Navarro, Colby" uniqKey="Navarro C" first="Colby" last="Navarro">Colby Navarro</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Silva, Iris" sort="Silva, Iris" uniqKey="Silva I" first="Iris" last="Silva">Iris Silva</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Szafranski, Przemyslaw" sort="Szafranski, Przemyslaw" uniqKey="Szafranski P" first="Przemyslaw" last="Szafranski">Przemyslaw Szafranski</name><affiliation><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></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><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></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><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Mostafa, Hasnaa" sort="Mostafa, Hasnaa" uniqKey="Mostafa H" first="Hasnaa" last="Mostafa">Hasnaa Mostafa</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Kozakewich, Harry" sort="Kozakewich, Harry" uniqKey="Kozakewich H" first="Harry" last="Kozakewich">Harry Kozakewich</name><affiliation><nlm:aff id="A3">Department of Pathology, Children’s Hospital Boston, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Kearney, Debra" sort="Kearney, Debra" uniqKey="Kearney D" first="Debra" last="Kearney">Debra Kearney</name><affiliation><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></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><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff></affiliation></author><author><name sortKey="Whitt, Merrissa" sort="Whitt, Merrissa" uniqKey="Whitt M" first="Merrissa" last="Whitt">Merrissa Whitt</name><affiliation><nlm:aff id="A5">Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</nlm:aff></affiliation></author><author><name sortKey="Bilic, Masha" sort="Bilic, Masha" uniqKey="Bilic M" first="Masha" last="Bilic">Masha Bilic</name><affiliation><nlm:aff id="A6">Department of Pathology and Lab Medicine, Medical University of South Carolina, Charleston, SC, USA</nlm:aff></affiliation></author><author><name sortKey="Margraf, Linda" sort="Margraf, Linda" uniqKey="Margraf L" first="Linda" last="Margraf">Linda Margraf</name><affiliation><nlm:aff id="A7">Department of Pathology, University of Texas Southwestern Medical School, Dallas, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Charles, Adrian" sort="Charles, Adrian" uniqKey="Charles A" first="Adrian" last="Charles">Adrian Charles</name><affiliation><nlm:aff id="A8">Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</nlm:aff></affiliation></author><author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name><affiliation><nlm:aff id="A9">Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</nlm:aff></affiliation></author><author><name sortKey="Gibson, Kathleen" sort="Gibson, Kathleen" uniqKey="Gibson K" first="Kathleen" last="Gibson">Kathleen Gibson</name><affiliation><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Lantz, Patrick" sort="Lantz, Patrick" uniqKey="Lantz P" first="Patrick" last="Lantz">Patrick Lantz</name><affiliation><nlm:aff id="A10">Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Garvin, Julian" sort="Garvin, Julian" uniqKey="Garvin J" first="Julian" last="Garvin">Julian Garvin</name><affiliation><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Petty, John" sort="Petty, John" uniqKey="Petty J" first="John" last="Petty">John Petty</name><affiliation><nlm:aff id="A11">Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Kiblawi, Zeina" sort="Kiblawi, Zeina" uniqKey="Kiblawi Z" first="Zeina" last="Kiblawi">Zeina Kiblawi</name><affiliation><nlm:aff id="A12">Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA, USA</nlm:aff></affiliation></author><author><name sortKey="Zuppan, Craig" sort="Zuppan, Craig" uniqKey="Zuppan C" first="Craig" last="Zuppan">Craig Zuppan</name><affiliation><nlm:aff id="A13">Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA, USA</nlm:aff></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><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff></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><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff></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><nlm:aff id="A14">Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</nlm:aff></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><nlm:aff id="A15">Department of Pathology, Duke University Medical Center, Durham, NC, USA</nlm:aff></affiliation></author><author><name sortKey="Shivanna, Binoy" sort="Shivanna, Binoy" uniqKey="Shivanna B" first="Binoy" last="Shivanna">Binoy Shivanna</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Schady, Deborah" sort="Schady, Deborah" uniqKey="Schady D" first="Deborah" last="Schady">Deborah Schady</name><affiliation><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></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><nlm:aff id="A16">USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA, USA</nlm:aff></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><nlm:aff id="A17">Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff></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><nlm:aff id="A18">Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona, Spain</nlm:aff></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><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff></affiliation></author><author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name><affiliation><nlm:aff id="A19">Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</nlm:aff></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><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff></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><nlm:aff id="A20">Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</nlm:aff></affiliation></author><author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name><affiliation><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Nguyen, Lananh" sort="Nguyen, Lananh" uniqKey="Nguyen L" first="Lananh" last="Nguyen">Lananh Nguyen</name><affiliation><nlm:aff id="A21">Department of Pathology, University of Pittsburgh, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Riley, Melissa" sort="Riley, Melissa" uniqKey="Riley M" first="Melissa" last="Riley">Melissa Riley</name><affiliation><nlm:aff id="A22">Department of Pediatrics, University of Pittsburgh, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Chassaing, Nicolas" sort="Chassaing, Nicolas" uniqKey="Chassaing N" first="Nicolas" last="Chassaing">Nicolas Chassaing</name><affiliation><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name><affiliation><nlm:aff id="A23">Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Rocha, Gustavo" sort="Rocha, Gustavo" uniqKey="Rocha G" first="Gustavo" last="Rocha">Gustavo Rocha</name><affiliation><nlm:aff id="A24">Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Fernandes, Susana" sort="Fernandes, Susana" uniqKey="Fernandes S" first="Susana" last="Fernandes">Susana Fernandes</name><affiliation><nlm:aff id="A25">Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</nlm:aff></affiliation></author><author><name sortKey="Brumbaugh, Jane" sort="Brumbaugh, Jane" uniqKey="Brumbaugh J" first="Jane" last="Brumbaugh">Jane Brumbaugh</name><affiliation><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff></affiliation></author><author><name sortKey="Roberts, Kari" sort="Roberts, Kari" uniqKey="Roberts K" first="Kari" last="Roberts">Kari Roberts</name><affiliation><nlm:aff id="A26">Department of Pediatrics, University of Minnesota, MN, USA</nlm:aff></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><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff></affiliation></author><author><name sortKey="Lo, Ivan" sort="Lo, Ivan" uniqKey="Lo I" first="Ivan" last="Lo">Ivan Lo</name><affiliation><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff></affiliation></author><author><name sortKey="Lam, Stephen" sort="Lam, Stephen" uniqKey="Lam S" first="Stephen" last="Lam">Stephen Lam</name><affiliation><nlm:aff id="A27">Clinical Genetic Service, Department of Health, Hong Kong SAR, China</nlm:aff></affiliation></author><author><name sortKey="Gerychova, Romana" sort="Gerychova, Romana" uniqKey="Gerychova R" first="Romana" last="Gerychova">Romana Gerychova</name><affiliation><nlm:aff id="A28">Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Jezova, Marta" sort="Jezova, Marta" uniqKey="Jezova M" first="Marta" last="Jezova">Marta Jezova</name><affiliation><nlm:aff id="A29">Department of Pathology, Masaryk University, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Valaskova, Iveta" sort="Valaskova, Iveta" uniqKey="Valaskova I" first="Iveta" last="Valaskova">Iveta Valaskova</name><affiliation><nlm:aff id="A30">Department of Medical Genetics, Masaryk University, Brno, Czech Republic</nlm:aff></affiliation></author><author><name sortKey="Fellmann, Florence" sort="Fellmann, Florence" uniqKey="Fellmann F" first="Florence" last="Fellmann">Florence Fellmann</name><affiliation><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Afshar, Katayoun" sort="Afshar, Katayoun" uniqKey="Afshar K" first="Katayoun" last="Afshar">Katayoun Afshar</name><affiliation><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Giannoni, Eric" sort="Giannoni, Eric" uniqKey="Giannoni E" first="Eric" last="Giannoni">Eric Giannoni</name><affiliation><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Muhlethaler, Vincent" sort="Muhlethaler, Vincent" uniqKey="Muhlethaler V" first="Vincent" last="Muhlethaler">Vincent Muhlethaler</name><affiliation><nlm:aff id="A32">Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Liang, Jinlong" sort="Liang, Jinlong" uniqKey="Liang J" first="Jinlong" last="Liang">Jinlong Liang</name><affiliation><nlm:aff id="A33">BGI-BGI Research, Shenzhen, China</nlm:aff></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><nlm:aff id="A31">Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Lioy, Janet" sort="Lioy, Janet" uniqKey="Lioy J" first="Janet" last="Lioy">Janet Lioy</name><affiliation><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Deshmukh, Hitesh" sort="Deshmukh, Hitesh" uniqKey="Deshmukh H" first="Hitesh" last="Deshmukh">Hitesh Deshmukh</name><affiliation><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Srinivasan, Lakshmi" sort="Srinivasan, Lakshmi" uniqKey="Srinivasan L" first="Lakshmi" last="Srinivasan">Lakshmi Srinivasan</name><affiliation><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></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><nlm:aff id="A35">Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</nlm:aff></affiliation></author><author><name sortKey="Sloman, Melissa" sort="Sloman, Melissa" uniqKey="Sloman M" first="Melissa" last="Sloman">Melissa Sloman</name><affiliation><nlm:aff id="A36">Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff></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><nlm:aff id="A37">Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff></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><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Hagman, Cecilia" sort="Hagman, Cecilia" uniqKey="Hagman C" first="Cecilia" last="Hagman">Cecilia Hagman</name><affiliation><nlm:aff id="A39">Department of Neonatology, Skane University Hospital, Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name><affiliation><nlm:aff id="A40">Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Barrea, Catherine" sort="Barrea, Catherine" uniqKey="Barrea C" first="Catherine" last="Barrea">Catherine Barrea</name><affiliation><nlm:aff id="A41">Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Galant, Christine" sort="Galant, Christine" uniqKey="Galant C" first="Christine" last="Galant">Christine Galant</name><affiliation><nlm:aff id="A42">Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></affiliation></author><author><name sortKey="Detaille, Thierry" sort="Detaille, Thierry" uniqKey="Detaille T" first="Thierry" last="Detaille">Thierry Detaille</name><affiliation><nlm:aff id="A43">Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</nlm:aff></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><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></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><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name><affiliation><nlm:aff id="A44">Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></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><nlm:aff id="A45">Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN, USA</nlm:aff></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><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></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><nlm:aff id="A38">Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></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><nlm:aff id="A46">Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Ravindranathan, Hari" sort="Ravindranathan, Hari" uniqKey="Ravindranathan H" first="Hari" last="Ravindranathan">Hari Ravindranathan</name><affiliation><nlm:aff id="A47">Children’s Intensive Care, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation></author><author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name><affiliation><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A50">Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:aff id="A48">Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A51">School of Women’s and Children’s health, The University of NSW, Sydney, NSW Australia</nlm:aff></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><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name><affiliation><nlm:aff id="A4">Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Welty, Stephen" sort="Welty, Stephen" uniqKey="Welty S" first="Stephen" last="Welty">Stephen Welty</name><affiliation><nlm:aff id="A1">Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></affiliation></author><author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name><affiliation><nlm:aff id="A2">Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</nlm:aff></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat.</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">23505205</article-id><article-id pub-id-type="pmc">3663886</article-id><article-id pub-id-type="doi">10.1002/humu.22313</article-id><article-id pub-id-type="manuscript">NIHMS454282</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>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</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Sen</surname><given-names>Partha</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref rid="FN1" 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rid="A2">2</xref></contrib></contrib-group><aff id="A1"><label>1</label>Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA</aff><aff id="A2"><label>2</label>Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA</aff><aff id="A3"><label>3</label>Department of Pathology, Children’s Hospital Boston, Boston, MA, USA</aff><aff id="A4"><label>4</label>Department of Pathology, Texas Children’s Hospital, Houston, TX, USA</aff><aff id="A5"><label>5</label>Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA</aff><aff id="A6"><label>6</label>Department of Pathology and Lab Medicine, Medical University of South Carolina, Charleston, SC, USA</aff><aff id="A7"><label>7</label>Department of Pathology, University of Texas Southwestern Medical School, Dallas, TX, USA</aff><aff id="A8"><label>8</label>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</aff><aff id="A9"><label>9</label>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</aff><aff id="A10"><label>10</label>Department of Pathology, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</aff><aff id="A11"><label>11</label>Department of General Surgery, Wake Forest University, Baptist Medical Center, Winston-Salem, NC, USA</aff><aff id="A12"><label>12</label>Division of Neonatology, Harbor-UCLA Medical Center, Torrance, CA, USA</aff><aff id="A13"><label>13</label>Pediatric Pathology Division, Loma Linda University Medical Center, Loma Linda, CA, USA</aff><aff id="A14"><label>14</label>Department of Pediatrics, Duke University Medical Center, Durham, NC, USA</aff><aff id="A15"><label>15</label>Department of Pathology, Duke University Medical Center, Durham, NC, USA</aff><aff id="A16"><label>16</label>USC Division of Neonatal Medicine, Keck School of Medicine, Los Angeles, CA, USA</aff><aff id="A17"><label>17</label>Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA</aff><aff id="A18"><label>18</label>Unitat de Genètica Clínica, Hospital Vall d’Hebrón, Barcelona, Spain</aff><aff id="A19"><label>19</label>Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany</aff><aff id="A20"><label>20</label>Department of Laboratories, Seattle Children’s Hospital and Department of Pathology, University of Washington, Seattle, WA, USA</aff><aff id="A21"><label>21</label>Department of Pathology, University of Pittsburgh, PA, USA</aff><aff id="A22"><label>22</label>Department of Pediatrics, University of Pittsburgh, PA, USA</aff><aff id="A23"><label>23</label>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</aff><aff id="A24"><label>24</label>Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</aff><aff id="A25"><label>25</label>Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</aff><aff id="A26"><label>26</label>Department of Pediatrics, University of Minnesota, MN, USA</aff><aff id="A27"><label>27</label>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</aff><aff id="A28"><label>28</label>Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</aff><aff id="A29"><label>29</label>Department of Pathology, Masaryk University, Brno, Czech Republic</aff><aff id="A30"><label>30</label>Department of Medical Genetics, Masaryk University, Brno, Czech Republic</aff><aff id="A31"><label>31</label>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</aff><aff id="A32"><label>32</label>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</aff><aff id="A33"><label>33</label>BGI-BGI Research, Shenzhen, China</aff><aff id="A34"><label>34</label>Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</aff><aff id="A35"><label>35</label>Division of Neonatology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA</aff><aff id="A36"><label>36</label>Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</aff><aff id="A37"><label>37</label>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</aff><aff id="A38"><label>38</label>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</aff><aff id="A46"><label>46</label>Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</aff><aff id="A39"><label>39</label>Department of Neonatology, Skane University Hospital, Lund, Sweden</aff><aff id="A40"><label>40</label>Center for Human Genetics, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</aff><aff id="A41"><label>41</label>Pediatrics Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</aff><aff id="A42"><label>42</label>Pathology Department, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</aff><aff id="A43"><label>43</label>Pediatric Intensive Care Unit, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</aff><aff id="A44"><label>44</label>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA</aff><aff id="A45"><label>45</label>Division of Neonatology, Vanderbilt University School of Medicine, Nashville, TN, USA</aff><aff id="A47"><label>47</label>Children’s Intensive Care, The University of NSW, Sydney, NSW Australia</aff><aff id="A48"><label>48</label>Department of Anatomical Pathology, The University of NSW, Sydney, NSW Australia</aff><aff id="A49"><label>49</label>Department of Medical Genetics, Sydney Children’s Hospital, The University of NSW, Sydney, NSW Australia</aff><aff id="A50"><label>50</label>Anatomical Pathology, SEALS, Prince of Wales Hospital, The University of NSW, Sydney, NSW Australia</aff><aff id="A51"><label>51</label>School of Women’s and Children’s health, The University of NSW, Sydney, NSW Australia</aff><author-notes><corresp id="FN1"><label>†</label>Corresponding author: Partha Sen PhD, Department of Pediatrics-Nutrition, 790 Feigin Center, Baylor College of Medicine, 1102 Bates Street, Houston, TX 77030, (832) 824 4764, <email>psen@bcm.edu</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>29</day><month>3</month><year>2013</year></pub-date><pub-date pub-type="epub"><day>12</day><month>4</month><year>2013</year></pub-date><pub-date pub-type="ppub"><month>6</month><year>2013</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>6</month><year>2014</year></pub-date><volume>34</volume><issue>6</issue><fpage>801</fpage><lpage>811</lpage><abstract><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></abstract><kwd-group><kwd>Lung</kwd><kwd>Development</kwd><kwd>Angiogenesis</kwd><kwd>ACD/MPV</kwd><kwd><italic>FOXF1</italic></kwd><kwd>Imprinting</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Heart, Lung, and Blood Institute : NHLBI</funding-source><award-id>R01 HL101975 || HL</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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