X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses
Identifieur interne : 002634 ( Main/Exploration ); précédent : 002633; suivant : 002635X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses
Auteurs : Albert Beckers [Belgique] ; Maya Beth Lodish [États-Unis] ; Giampaolo Trivellin [États-Unis] ; Liliya Rostomyan [Belgique] ; Misu Lee [Allemagne] ; Fabio R. Faucz [États-Unis] ; Bo Yuan [États-Unis] ; Catherine S. Choong [Australie] ; Jean-Hubert Caberg [Belgique] ; Elisa Verrua [Italie] ; Luciana Ansaneli Naves [Brésil] ; Tim D. Cheetham [Royaume-Uni] ; Jacques Young [France] ; Philippe A. Lysy [Belgique] ; Patrick Petrossians [Belgique] ; Andrew Cotterill [Australie] ; Nalini Samir Shah [Inde] ; Daniel Metzger [États-Unis] ; Emilie Castermans [Belgique] ; Maria Rosaria Ambrosio [Italie] ; Chiara Villa [Belgique, France] ; Natalia Strebkova [Russie] ; Nadia Mazerkina [France, Russie] ; Stéphan Gaillard [France] ; Gustavo Barcelos Barra [Brésil] ; Luis Augusto Casulari [Brésil] ; Sebastian J. Neggers [Pays-Bas] ; Roberto Salvatori [États-Unis] ; Marie-Lise Jaffrain-Rea [Italie] ; Margaret Zacharin [Australie] ; Beatriz Lecumberri Santamaria [Espagne] ; Sabina Zacharieva [Bulgarie] ; Ee Mun Lim [Australie] ; Giovanna Mantovani [Italie] ; Maria Chaira Zatelli [Italie] ; Michael T. Collins [États-Unis] ; Jean-François Bonneville [Belgique] ; Martha Quezado [États-Unis] ; Prashant Chittiboina [États-Unis] ; Edward H. Oldfield [États-Unis] ; Vincent Bours [Belgique] ; Pengfei Liu [États-Unis] ; Wouter De Herder [Pays-Bas] ; Natalia Pellegata [Allemagne] ; James R. Lupski [États-Unis] ; Adrian F. Daly [Belgique] ; Constantine A. Stratakis [États-Unis]Source :
- Endocrine-related cancer [ 1351-0088 ] ; 2015.
Abstract
X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene
Url:
DOI: 10.1530/ERC-15-0038
PubMed: 25712922
PubMed Central: 4433400
Affiliations:
- Allemagne, Australie, Belgique, Brésil, Bulgarie, Espagne, France, Inde, Italie, Pays-Bas, Royaume-Uni, Russie, États-Unis
- Communauté de Madrid, District fédéral central, Hollande-Méridionale, Lombardie, Maryland, Région de Bruxelles-Capitale, Sofia-ville (oblast), Texas, Virginie, Île-de-France
- Bruxelles, Louvain-la-Neuve, Madrid, Milan, Moscou, Paris, Rotterdam, Sofia
- Université Paris-Descartes, Université catholique de Louvain
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 002169
- to stream Pmc, to step Curation: 002020
- to stream Pmc, to step Checkpoint: 000C32
- to stream Ncbi, to step Merge: 002289
- to stream Ncbi, to step Curation: 002289
- to stream Ncbi, to step Checkpoint: 002289
- to stream Main, to step Merge: 002633
- to stream Main, to step Curation: 002634
Le document en format XML
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<author><name sortKey="Trivellin, Giampaolo" sort="Trivellin, Giampaolo" uniqKey="Trivellin G" first="Giampaolo" last="Trivellin">Giampaolo Trivellin</name>
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<author><name sortKey="Rostomyan, Liliya" sort="Rostomyan, Liliya" uniqKey="Rostomyan L" first="Liliya" last="Rostomyan">Liliya Rostomyan</name>
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<author><name sortKey="Lee, Misu" sort="Lee, Misu" uniqKey="Lee M" first="Misu" last="Lee">Misu Lee</name>
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<author><name sortKey="Faucz, Fabio R" sort="Faucz, Fabio R" uniqKey="Faucz F" first="Fabio R" last="Faucz">Fabio R. Faucz</name>
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<author><name sortKey="Yuan, Bo" sort="Yuan, Bo" uniqKey="Yuan B" first="Bo" last="Yuan">Bo Yuan</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
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<author><name sortKey="Choong, Catherine S" sort="Choong, Catherine S" uniqKey="Choong C" first="Catherine S" last="Choong">Catherine S. Choong</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Pediatric Endocrinology & Diabetes, Princess Margaret Hospital for Children, Subiaco WA, Australia</nlm:aff>
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<author><name sortKey="Caberg, Jean Hubert" sort="Caberg, Jean Hubert" uniqKey="Caberg J" first="Jean-Hubert" last="Caberg">Jean-Hubert Caberg</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
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<author><name sortKey="Verrua, Elisa" sort="Verrua, Elisa" uniqKey="Verrua E" first="Elisa" last="Verrua">Elisa Verrua</name>
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<wicri:regionArea>Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea>
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<region nuts="2">Lombardie</region>
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<author><name sortKey="Naves, Luciana Ansaneli" sort="Naves, Luciana Ansaneli" uniqKey="Naves L" first="Luciana Ansaneli" last="Naves">Luciana Ansaneli Naves</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Endocrinology, University of Brasilia, Brasilia, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Endocrinology, University of Brasilia, Brasilia</wicri:regionArea>
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<author><name sortKey="Cheetham, Tim D" sort="Cheetham, Tim D" uniqKey="Cheetham T" first="Tim D" last="Cheetham">Tim D. Cheetham</name>
<affiliation wicri:level="1"><nlm:aff id="A9">Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Young, Jacques" sort="Young, Jacques" uniqKey="Young J" first="Jacques" last="Young">Jacques Young</name>
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<author><name sortKey="Lysy, Philippe A" sort="Lysy, Philippe A" uniqKey="Lysy P" first="Philippe A" last="Lysy">Philippe A. Lysy</name>
<affiliation wicri:level="4"><nlm:aff id="A11">Pediatric Endocrinology Unit, Université Catholique de Louvain, Bruxelles, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Pediatric Endocrinology Unit, Université Catholique de Louvain, Bruxelles</wicri:regionArea>
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<author><name sortKey="Petrossians, Patrick" sort="Petrossians, Patrick" uniqKey="Petrossians P" first="Patrick" last="Petrossians">Patrick Petrossians</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Cotterill, Andrew" sort="Cotterill, Andrew" uniqKey="Cotterill A" first="Andrew" last="Cotterill">Andrew Cotterill</name>
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<author><name sortKey="Shah, Nalini Samir" sort="Shah, Nalini Samir" uniqKey="Shah N" first="Nalini Samir" last="Shah">Nalini Samir Shah</name>
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<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Endocrinology, KEM Hospital, Mumbai</wicri:regionArea>
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<author><name sortKey="Metzger, Daniel" sort="Metzger, Daniel" uniqKey="Metzger D" first="Daniel" last="Metzger">Daniel Metzger</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Castermans, Emilie" sort="Castermans, Emilie" uniqKey="Castermans E" first="Emilie" last="Castermans">Emilie Castermans</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Ambrosio, Maria Rosaria" sort="Ambrosio, Maria Rosaria" uniqKey="Ambrosio M" first="Maria Rosaria" last="Ambrosio">Maria Rosaria Ambrosio</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Villa, Chiara" sort="Villa, Chiara" uniqKey="Villa C" first="Chiara" last="Villa">Chiara Villa</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A16">Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes</wicri:regionArea>
<wicri:noRegion>Suresnes</wicri:noRegion>
<wicri:noRegion>Suresnes</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A17">INSERM Unité 1016, Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM Unité 1016, Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
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<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
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<author><name sortKey="Strebkova, Natalia" sort="Strebkova, Natalia" uniqKey="Strebkova N" first="Natalia" last="Strebkova">Natalia Strebkova</name>
<affiliation wicri:level="3"><nlm:aff id="A18">Endocrinological Research Centre, Institute of Pediatric Endocrinology, Moscow, Russia</nlm:aff>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Endocrinological Research Centre, Institute of Pediatric Endocrinology, Moscow</wicri:regionArea>
<placeName><settlement type="city">Moscou</settlement>
<region>District fédéral central</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mazerkina, Nadia" sort="Mazerkina, Nadia" uniqKey="Mazerkina N" first="Nadia" last="Mazerkina">Nadia Mazerkina</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes</wicri:regionArea>
<wicri:noRegion>Suresnes</wicri:noRegion>
<wicri:noRegion>Suresnes</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A19">Burdenko Neurosurgery Institute, Moscow, Russia</nlm:aff>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Burdenko Neurosurgery Institute, Moscow</wicri:regionArea>
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<region>District fédéral central</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaillard, Stephan" sort="Gaillard, Stephan" uniqKey="Gaillard S" first="Stéphan" last="Gaillard">Stéphan Gaillard</name>
<affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurosurgery, Hopital Foch, Suresnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Neurosurgery, Hopital Foch, Suresnes</wicri:regionArea>
<wicri:noRegion>Suresnes</wicri:noRegion>
<wicri:noRegion>Suresnes</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barra, Gustavo Barcelos" sort="Barra, Gustavo Barcelos" uniqKey="Barra G" first="Gustavo Barcelos" last="Barra">Gustavo Barcelos Barra</name>
<affiliation wicri:level="1"><nlm:aff id="A21">Laboratorio Sabin, Brasilia, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Laboratorio Sabin, Brasilia</wicri:regionArea>
<wicri:noRegion>Brasilia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Casulari, Luis Augusto" sort="Casulari, Luis Augusto" uniqKey="Casulari L" first="Luis Augusto" last="Casulari">Luis Augusto Casulari</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Endocrinology, University of Brasilia, Brasilia, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Endocrinology, University of Brasilia, Brasilia</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Neggers, Sebastian J" sort="Neggers, Sebastian J" uniqKey="Neggers S" first="Sebastian J." last="Neggers">Sebastian J. Neggers</name>
<affiliation wicri:level="3"><nlm:aff id="A22">Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
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</author>
<author><name sortKey="Salvatori, Roberto" sort="Salvatori, Roberto" uniqKey="Salvatori R" first="Roberto" last="Salvatori">Roberto Salvatori</name>
<affiliation wicri:level="2"><nlm:aff id="A23">Department of Endocrinology, Johns Hopkins University, Baltimore, Maryland, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Endocrinology, Johns Hopkins University, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jaffrain Rea, Marie Lise" sort="Jaffrain Rea, Marie Lise" uniqKey="Jaffrain Rea M" first="Marie-Lise" last="Jaffrain-Rea">Marie-Lise Jaffrain-Rea</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Department of Endocrinology, University of L’Aquila, IRCCS, L’Aquila, and Neuromed, Pozilli, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Endocrinology, University of L’Aquila, IRCCS, L’Aquila, and Neuromed, Pozilli</wicri:regionArea>
<wicri:noRegion>Pozilli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name>
<affiliation wicri:level="1"><nlm:aff id="A25">Department of Endocrinology and Diabetes The Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Endocrinology and Diabetes The Royal Children’s Hospital, Melbourne, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santamaria, Beatriz Lecumberri" sort="Santamaria, Beatriz Lecumberri" uniqKey="Santamaria B" first="Beatriz Lecumberri" last="Santamaria">Beatriz Lecumberri Santamaria</name>
<affiliation wicri:level="3"><nlm:aff id="A26">Department of Endocrinology, Hospital Universitario La Paz, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Endocrinology, Hospital Universitario La Paz, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zacharieva, Sabina" sort="Zacharieva, Sabina" uniqKey="Zacharieva S" first="Sabina" last="Zacharieva">Sabina Zacharieva</name>
<affiliation wicri:level="3"><nlm:aff id="A27">Clinical Center of Endocrinology and Gerontology, Medical University of Sofia, Sofia, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Clinical Center of Endocrinology and Gerontology, Medical University of Sofia, Sofia</wicri:regionArea>
<placeName><settlement type="city">Sofia</settlement>
<region nuts="2">Sofia-ville (oblast)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lim, Ee Mun" sort="Lim, Ee Mun" uniqKey="Lim E" first="Ee Mun" last="Lim">Ee Mun Lim</name>
<affiliation wicri:level="1"><nlm:aff id="A28">Department of Clinical Biochemistry, Pharmacology & Toxicology, PathWest QEII-Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Clinical Biochemistry, Pharmacology & Toxicology, PathWest QEII-Sir Charles Gairdner Hospital, Nedlands, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mantovani, Giovanna" sort="Mantovani, Giovanna" uniqKey="Mantovani G" first="Giovanna" last="Mantovani">Giovanna Mantovani</name>
<affiliation wicri:level="3"><nlm:aff id="A7">Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zatelli, Maria Chaira" sort="Zatelli, Maria Chaira" uniqKey="Zatelli M" first="Maria Chaira" last="Zatelli">Maria Chaira Zatelli</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara</wicri:regionArea>
<wicri:noRegion>Ferrara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Collins, Michael T" sort="Collins, Michael T" uniqKey="Collins M" first="Michael T" last="Collins">Michael T. Collins</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Skeletal Clinical Studies Unit, National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Skeletal Clinical Studies Unit, National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonneville, Jean Francois" sort="Bonneville, Jean Francois" uniqKey="Bonneville J" first="Jean-François" last="Bonneville">Jean-François Bonneville</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quezado, Martha" sort="Quezado, Martha" uniqKey="Quezado M" first="Martha" last="Quezado">Martha Quezado</name>
<affiliation wicri:level="1"><nlm:aff id="A30">Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, 20892</wicri:regionArea>
<wicri:noRegion>20892</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chittiboina, Prashant" sort="Chittiboina, Prashant" uniqKey="Chittiboina P" first="Prashant" last="Chittiboina">Prashant Chittiboina</name>
<affiliation wicri:level="2"><nlm:aff id="A31">National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Oldfield, Edward H" sort="Oldfield, Edward H" uniqKey="Oldfield E" first="Edward H." last="Oldfield">Edward H. Oldfield</name>
<affiliation wicri:level="2"><nlm:aff id="A32">Department of Neurosurgery, University of Virginia Medical School, Charlottesville, Virginia, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurosurgery, University of Virginia Medical School, Charlottesville, Virginia</wicri:regionArea>
<placeName><region type="state">Virginie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bours, Vincent" sort="Bours, Vincent" uniqKey="Bours V" first="Vincent" last="Bours">Vincent Bours</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liu, Pengfei" sort="Liu, Pengfei" uniqKey="Liu P" first="Pengfei" last="Liu">Pengfei Liu</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="De Herder, Wouter" sort="De Herder, Wouter" uniqKey="De Herder W" first="Wouter" last="De Herder">Wouter De Herder</name>
<affiliation wicri:level="3"><nlm:aff id="A22">Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pellegata, Natalia" sort="Pellegata, Natalia" uniqKey="Pellegata N" first="Natalia" last="Pellegata">Natalia Pellegata</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Helmholtz Zentrum München, Institute of Pathology, Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Helmholtz Zentrum München, Institute of Pathology, Neuherberg</wicri:regionArea>
<wicri:noRegion>Neuherberg</wicri:noRegion>
<wicri:noRegion>Neuherberg</wicri:noRegion>
<wicri:noRegion>Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A33">Department of Pediatrics, and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A34">Texas Children’s Hospital, Houston, Texas, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Texas Children’s Hospital, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Daly, Adrian F" sort="Daly, Adrian F" uniqKey="Daly A" first="Adrian F." last="Daly">Adrian F. Daly</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A." last="Stratakis">Constantine A. Stratakis</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">X-linked Acrogigantism (X-LAG) Syndrome: Clinical Profile and Therapeutic Responses</title>
<author><name sortKey="Beckers, Albert" sort="Beckers, Albert" uniqKey="Beckers A" first="Albert" last="Beckers">Albert Beckers</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lodish, Maya Beth" sort="Lodish, Maya Beth" uniqKey="Lodish M" first="Maya Beth" last="Lodish">Maya Beth Lodish</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Trivellin, Giampaolo" sort="Trivellin, Giampaolo" uniqKey="Trivellin G" first="Giampaolo" last="Trivellin">Giampaolo Trivellin</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rostomyan, Liliya" sort="Rostomyan, Liliya" uniqKey="Rostomyan L" first="Liliya" last="Rostomyan">Liliya Rostomyan</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lee, Misu" sort="Lee, Misu" uniqKey="Lee M" first="Misu" last="Lee">Misu Lee</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Helmholtz Zentrum München, Institute of Pathology, Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Helmholtz Zentrum München, Institute of Pathology, Neuherberg</wicri:regionArea>
<wicri:noRegion>Neuherberg</wicri:noRegion>
<wicri:noRegion>Neuherberg</wicri:noRegion>
<wicri:noRegion>Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Faucz, Fabio R" sort="Faucz, Fabio R" uniqKey="Faucz F" first="Fabio R" last="Faucz">Fabio R. Faucz</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Yuan, Bo" sort="Yuan, Bo" uniqKey="Yuan B" first="Bo" last="Yuan">Bo Yuan</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Choong, Catherine S" sort="Choong, Catherine S" uniqKey="Choong C" first="Catherine S" last="Choong">Catherine S. Choong</name>
<affiliation wicri:level="1"><nlm:aff id="A5">Department of Pediatric Endocrinology & Diabetes, Princess Margaret Hospital for Children, Subiaco WA, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Pediatric Endocrinology & Diabetes, Princess Margaret Hospital for Children, Subiaco WA</wicri:regionArea>
<wicri:noRegion>Subiaco WA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Caberg, Jean Hubert" sort="Caberg, Jean Hubert" uniqKey="Caberg J" first="Jean-Hubert" last="Caberg">Jean-Hubert Caberg</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Verrua, Elisa" sort="Verrua, Elisa" uniqKey="Verrua E" first="Elisa" last="Verrua">Elisa Verrua</name>
<affiliation wicri:level="3"><nlm:aff id="A7">Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Naves, Luciana Ansaneli" sort="Naves, Luciana Ansaneli" uniqKey="Naves L" first="Luciana Ansaneli" last="Naves">Luciana Ansaneli Naves</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Endocrinology, University of Brasilia, Brasilia, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Endocrinology, University of Brasilia, Brasilia</wicri:regionArea>
<wicri:noRegion>Brasilia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cheetham, Tim D" sort="Cheetham, Tim D" uniqKey="Cheetham T" first="Tim D" last="Cheetham">Tim D. Cheetham</name>
<affiliation wicri:level="1"><nlm:aff id="A9">Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne</wicri:regionArea>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Young, Jacques" sort="Young, Jacques" uniqKey="Young J" first="Jacques" last="Young">Jacques Young</name>
<affiliation wicri:level="1"><nlm:aff id="A10">INSERM U 693, GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U 693, GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre</wicri:regionArea>
<wicri:noRegion>94270 Le Kremlin-Bicêtre</wicri:noRegion>
<wicri:noRegion>94270 Le Kremlin-Bicêtre</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lysy, Philippe A" sort="Lysy, Philippe A" uniqKey="Lysy P" first="Philippe A" last="Lysy">Philippe A. Lysy</name>
<affiliation wicri:level="4"><nlm:aff id="A11">Pediatric Endocrinology Unit, Université Catholique de Louvain, Bruxelles, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Pediatric Endocrinology Unit, Université Catholique de Louvain, Bruxelles</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
<author><name sortKey="Petrossians, Patrick" sort="Petrossians, Patrick" uniqKey="Petrossians P" first="Patrick" last="Petrossians">Patrick Petrossians</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Cotterill, Andrew" sort="Cotterill, Andrew" uniqKey="Cotterill A" first="Andrew" last="Cotterill">Andrew Cotterill</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Mater Medical Research Institute, University of Queensland, Brisbane, Queensland, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Mater Medical Research Institute, University of Queensland, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shah, Nalini Samir" sort="Shah, Nalini Samir" uniqKey="Shah N" first="Nalini Samir" last="Shah">Nalini Samir Shah</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Department of Endocrinology, KEM Hospital, Mumbai, India</nlm:aff>
<country xml:lang="fr">Inde</country>
<wicri:regionArea>Department of Endocrinology, KEM Hospital, Mumbai</wicri:regionArea>
<wicri:noRegion>Mumbai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Metzger, Daniel" sort="Metzger, Daniel" uniqKey="Metzger D" first="Daniel" last="Metzger">Daniel Metzger</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Castermans, Emilie" sort="Castermans, Emilie" uniqKey="Castermans E" first="Emilie" last="Castermans">Emilie Castermans</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ambrosio, Maria Rosaria" sort="Ambrosio, Maria Rosaria" uniqKey="Ambrosio M" first="Maria Rosaria" last="Ambrosio">Maria Rosaria Ambrosio</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara</wicri:regionArea>
<wicri:noRegion>Ferrara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Villa, Chiara" sort="Villa, Chiara" uniqKey="Villa C" first="Chiara" last="Villa">Chiara Villa</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A16">Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes</wicri:regionArea>
<wicri:noRegion>Suresnes</wicri:noRegion>
<wicri:noRegion>Suresnes</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A17">INSERM Unité 1016, Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM Unité 1016, Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Strebkova, Natalia" sort="Strebkova, Natalia" uniqKey="Strebkova N" first="Natalia" last="Strebkova">Natalia Strebkova</name>
<affiliation wicri:level="3"><nlm:aff id="A18">Endocrinological Research Centre, Institute of Pediatric Endocrinology, Moscow, Russia</nlm:aff>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Endocrinological Research Centre, Institute of Pediatric Endocrinology, Moscow</wicri:regionArea>
<placeName><settlement type="city">Moscou</settlement>
<region>District fédéral central</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mazerkina, Nadia" sort="Mazerkina, Nadia" uniqKey="Mazerkina N" first="Nadia" last="Mazerkina">Nadia Mazerkina</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service d’Anatomie et Cytologie Pathologiques, Hopital Foch, Suresnes</wicri:regionArea>
<wicri:noRegion>Suresnes</wicri:noRegion>
<wicri:noRegion>Suresnes</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A19">Burdenko Neurosurgery Institute, Moscow, Russia</nlm:aff>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Burdenko Neurosurgery Institute, Moscow</wicri:regionArea>
<placeName><settlement type="city">Moscou</settlement>
<region>District fédéral central</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gaillard, Stephan" sort="Gaillard, Stephan" uniqKey="Gaillard S" first="Stéphan" last="Gaillard">Stéphan Gaillard</name>
<affiliation wicri:level="1"><nlm:aff id="A20">Department of Neurosurgery, Hopital Foch, Suresnes, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Neurosurgery, Hopital Foch, Suresnes</wicri:regionArea>
<wicri:noRegion>Suresnes</wicri:noRegion>
<wicri:noRegion>Suresnes</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Barra, Gustavo Barcelos" sort="Barra, Gustavo Barcelos" uniqKey="Barra G" first="Gustavo Barcelos" last="Barra">Gustavo Barcelos Barra</name>
<affiliation wicri:level="1"><nlm:aff id="A21">Laboratorio Sabin, Brasilia, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Laboratorio Sabin, Brasilia</wicri:regionArea>
<wicri:noRegion>Brasilia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Casulari, Luis Augusto" sort="Casulari, Luis Augusto" uniqKey="Casulari L" first="Luis Augusto" last="Casulari">Luis Augusto Casulari</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Endocrinology, University of Brasilia, Brasilia, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Department of Endocrinology, University of Brasilia, Brasilia</wicri:regionArea>
<wicri:noRegion>Brasilia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Neggers, Sebastian J" sort="Neggers, Sebastian J" uniqKey="Neggers S" first="Sebastian J." last="Neggers">Sebastian J. Neggers</name>
<affiliation wicri:level="3"><nlm:aff id="A22">Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Salvatori, Roberto" sort="Salvatori, Roberto" uniqKey="Salvatori R" first="Roberto" last="Salvatori">Roberto Salvatori</name>
<affiliation wicri:level="2"><nlm:aff id="A23">Department of Endocrinology, Johns Hopkins University, Baltimore, Maryland, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Endocrinology, Johns Hopkins University, Baltimore, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jaffrain Rea, Marie Lise" sort="Jaffrain Rea, Marie Lise" uniqKey="Jaffrain Rea M" first="Marie-Lise" last="Jaffrain-Rea">Marie-Lise Jaffrain-Rea</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Department of Endocrinology, University of L’Aquila, IRCCS, L’Aquila, and Neuromed, Pozilli, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Endocrinology, University of L’Aquila, IRCCS, L’Aquila, and Neuromed, Pozilli</wicri:regionArea>
<wicri:noRegion>Pozilli</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zacharin, Margaret" sort="Zacharin, Margaret" uniqKey="Zacharin M" first="Margaret" last="Zacharin">Margaret Zacharin</name>
<affiliation wicri:level="1"><nlm:aff id="A25">Department of Endocrinology and Diabetes The Royal Children’s Hospital, Melbourne, Victoria, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Endocrinology and Diabetes The Royal Children’s Hospital, Melbourne, Victoria</wicri:regionArea>
<wicri:noRegion>Victoria</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santamaria, Beatriz Lecumberri" sort="Santamaria, Beatriz Lecumberri" uniqKey="Santamaria B" first="Beatriz Lecumberri" last="Santamaria">Beatriz Lecumberri Santamaria</name>
<affiliation wicri:level="3"><nlm:aff id="A26">Department of Endocrinology, Hospital Universitario La Paz, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Endocrinology, Hospital Universitario La Paz, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zacharieva, Sabina" sort="Zacharieva, Sabina" uniqKey="Zacharieva S" first="Sabina" last="Zacharieva">Sabina Zacharieva</name>
<affiliation wicri:level="3"><nlm:aff id="A27">Clinical Center of Endocrinology and Gerontology, Medical University of Sofia, Sofia, Bulgaria</nlm:aff>
<country xml:lang="fr">Bulgarie</country>
<wicri:regionArea>Clinical Center of Endocrinology and Gerontology, Medical University of Sofia, Sofia</wicri:regionArea>
<placeName><settlement type="city">Sofia</settlement>
<region nuts="2">Sofia-ville (oblast)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lim, Ee Mun" sort="Lim, Ee Mun" uniqKey="Lim E" first="Ee Mun" last="Lim">Ee Mun Lim</name>
<affiliation wicri:level="1"><nlm:aff id="A28">Department of Clinical Biochemistry, Pharmacology & Toxicology, PathWest QEII-Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Clinical Biochemistry, Pharmacology & Toxicology, PathWest QEII-Sir Charles Gairdner Hospital, Nedlands, Western Australia</wicri:regionArea>
<wicri:noRegion>Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mantovani, Giovanna" sort="Mantovani, Giovanna" uniqKey="Mantovani G" first="Giovanna" last="Mantovani">Giovanna Mantovani</name>
<affiliation wicri:level="3"><nlm:aff id="A7">Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Endocrinology and Diabetology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
<region nuts="2">Lombardie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zatelli, Maria Chaira" sort="Zatelli, Maria Chaira" uniqKey="Zatelli M" first="Maria Chaira" last="Zatelli">Maria Chaira Zatelli</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical Sciences, Section of Endocrinology, University of Ferrara, Ferrara</wicri:regionArea>
<wicri:noRegion>Ferrara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Collins, Michael T" sort="Collins, Michael T" uniqKey="Collins M" first="Michael T" last="Collins">Michael T. Collins</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Skeletal Clinical Studies Unit, National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Skeletal Clinical Studies Unit, National Institute of Dental and Craniofacial Research, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bonneville, Jean Francois" sort="Bonneville, Jean Francois" uniqKey="Bonneville J" first="Jean-François" last="Bonneville">Jean-François Bonneville</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Quezado, Martha" sort="Quezado, Martha" uniqKey="Quezado M" first="Martha" last="Quezado">Martha Quezado</name>
<affiliation wicri:level="1"><nlm:aff id="A30">Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, 20892, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, Maryland, 20892</wicri:regionArea>
<wicri:noRegion>20892</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chittiboina, Prashant" sort="Chittiboina, Prashant" uniqKey="Chittiboina P" first="Prashant" last="Chittiboina">Prashant Chittiboina</name>
<affiliation wicri:level="2"><nlm:aff id="A31">National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Oldfield, Edward H" sort="Oldfield, Edward H" uniqKey="Oldfield E" first="Edward H." last="Oldfield">Edward H. Oldfield</name>
<affiliation wicri:level="2"><nlm:aff id="A32">Department of Neurosurgery, University of Virginia Medical School, Charlottesville, Virginia, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurosurgery, University of Virginia Medical School, Charlottesville, Virginia</wicri:regionArea>
<placeName><region type="state">Virginie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bours, Vincent" sort="Bours, Vincent" uniqKey="Bours V" first="Vincent" last="Bours">Vincent Bours</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Liu, Pengfei" sort="Liu, Pengfei" uniqKey="Liu P" first="Pengfei" last="Liu">Pengfei Liu</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="De Herder, Wouter" sort="De Herder, Wouter" uniqKey="De Herder W" first="Wouter" last="De Herder">Wouter De Herder</name>
<affiliation wicri:level="3"><nlm:aff id="A22">Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medicine, Section of Endocrinology, Erasmus University Medical Center Rotterdam / Pituitary Center Rotterdam, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pellegata, Natalia" sort="Pellegata, Natalia" uniqKey="Pellegata N" first="Natalia" last="Pellegata">Natalia Pellegata</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Helmholtz Zentrum München, Institute of Pathology, Neuherberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Helmholtz Zentrum München, Institute of Pathology, Neuherberg</wicri:regionArea>
<wicri:noRegion>Neuherberg</wicri:noRegion>
<wicri:noRegion>Neuherberg</wicri:noRegion>
<wicri:noRegion>Neuherberg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<affiliation wicri:level="2"><nlm:aff id="A4">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Texas</region>
</placeName>
<wicri:cityArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A33">Department of Pediatrics, and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, and Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A34">Texas Children’s Hospital, Houston, Texas, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Texas Children’s Hospital, Houston, Texas</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Daly, Adrian F" sort="Daly, Adrian F" uniqKey="Daly A" first="Adrian F." last="Daly">Adrian F. Daly</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège</wicri:regionArea>
<wicri:noRegion>Liège</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A." last="Stratakis">Constantine A. Stratakis</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda</wicri:cityArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Endocrine-related cancer</title>
<idno type="ISSN">1351-0088</idno>
<idno type="eISSN">1479-6821</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">X-linked acro-gigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene <italic>GPR101</italic>
, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and a microduplication in chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in 2 families was dominant with all Xq26.3 duplication carriers being affected. Patients began to grow rapidly as early as 2–3 months of age (median 12 months). At diagnosis (median delay 27 months), patients had a median height and weight SDS score of >+3.9 SDS. Apart from the increased overall body size, the children had acromegalic symptoms including acral enlargement and facial coarsening. More than a third of cases had increased appetite. Patients had marked hypersecretion of GH/IGF-1 and prolactin, usually due to a pituitary macroadenoma or hyperplasia. Primary neurosurgical control was achieved with extensive anterior pituitary resection but postoperative hypopituitarism was frequent. Control with somatostatin analogs was not readily achieved despite moderate to high somatostatin receptor subtype-2 expression in tumor tissue. Postoperative adjuvant pegvisomant achieved control of IGF-1 all 5 cases in which it was employed. X-LAG is a new infant-onset gigantism syndrome that has a severe clinical phenotype leading to challenging disease management.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Brésil</li>
<li>Bulgarie</li>
<li>Espagne</li>
<li>France</li>
<li>Inde</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Russie</li>
<li>États-Unis</li>
</country>
<region><li>Communauté de Madrid</li>
<li>District fédéral central</li>
<li>Hollande-Méridionale</li>
<li>Lombardie</li>
<li>Maryland</li>
<li>Région de Bruxelles-Capitale</li>
<li>Sofia-ville (oblast)</li>
<li>Texas</li>
<li>Virginie</li>
<li>Île-de-France</li>
</region>
<settlement><li>Bruxelles</li>
<li>Louvain-la-Neuve</li>
<li>Madrid</li>
<li>Milan</li>
<li>Moscou</li>
<li>Paris</li>
<li>Rotterdam</li>
<li>Sofia</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université catholique de Louvain</li>
</orgName>
</list>
<tree><country name="Belgique"><noRegion><name sortKey="Beckers, Albert" sort="Beckers, Albert" uniqKey="Beckers A" first="Albert" last="Beckers">Albert Beckers</name>
</noRegion>
<name sortKey="Bonneville, Jean Francois" sort="Bonneville, Jean Francois" uniqKey="Bonneville J" first="Jean-François" last="Bonneville">Jean-François Bonneville</name>
<name sortKey="Bours, Vincent" sort="Bours, Vincent" uniqKey="Bours V" first="Vincent" last="Bours">Vincent Bours</name>
<name sortKey="Caberg, Jean Hubert" sort="Caberg, Jean Hubert" uniqKey="Caberg J" first="Jean-Hubert" last="Caberg">Jean-Hubert Caberg</name>
<name sortKey="Castermans, Emilie" sort="Castermans, Emilie" uniqKey="Castermans E" first="Emilie" last="Castermans">Emilie Castermans</name>
<name sortKey="Daly, Adrian F" sort="Daly, Adrian F" uniqKey="Daly A" first="Adrian F." last="Daly">Adrian F. Daly</name>
<name sortKey="Lysy, Philippe A" sort="Lysy, Philippe A" uniqKey="Lysy P" first="Philippe A" last="Lysy">Philippe A. Lysy</name>
<name sortKey="Petrossians, Patrick" sort="Petrossians, Patrick" uniqKey="Petrossians P" first="Patrick" last="Petrossians">Patrick Petrossians</name>
<name sortKey="Rostomyan, Liliya" sort="Rostomyan, Liliya" uniqKey="Rostomyan L" first="Liliya" last="Rostomyan">Liliya Rostomyan</name>
<name sortKey="Villa, Chiara" sort="Villa, Chiara" uniqKey="Villa C" first="Chiara" last="Villa">Chiara Villa</name>
</country>
<country name="États-Unis"><region name="Maryland"><name sortKey="Lodish, Maya Beth" sort="Lodish, Maya Beth" uniqKey="Lodish M" first="Maya Beth" last="Lodish">Maya Beth Lodish</name>
</region>
<name sortKey="Chittiboina, Prashant" sort="Chittiboina, Prashant" uniqKey="Chittiboina P" first="Prashant" last="Chittiboina">Prashant Chittiboina</name>
<name sortKey="Collins, Michael T" sort="Collins, Michael T" uniqKey="Collins M" first="Michael T" last="Collins">Michael T. Collins</name>
<name sortKey="Faucz, Fabio R" sort="Faucz, Fabio R" uniqKey="Faucz F" first="Fabio R" last="Faucz">Fabio R. Faucz</name>
<name sortKey="Liu, Pengfei" sort="Liu, Pengfei" uniqKey="Liu P" first="Pengfei" last="Liu">Pengfei Liu</name>
<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<name sortKey="Lupski, James R" sort="Lupski, James R" uniqKey="Lupski J" first="James R." last="Lupski">James R. Lupski</name>
<name sortKey="Metzger, Daniel" sort="Metzger, Daniel" uniqKey="Metzger D" first="Daniel" last="Metzger">Daniel Metzger</name>
<name sortKey="Oldfield, Edward H" sort="Oldfield, Edward H" uniqKey="Oldfield E" first="Edward H." last="Oldfield">Edward H. Oldfield</name>
<name sortKey="Quezado, Martha" sort="Quezado, Martha" uniqKey="Quezado M" first="Martha" last="Quezado">Martha Quezado</name>
<name sortKey="Salvatori, Roberto" sort="Salvatori, Roberto" uniqKey="Salvatori R" first="Roberto" last="Salvatori">Roberto Salvatori</name>
<name sortKey="Stratakis, Constantine A" sort="Stratakis, Constantine A" uniqKey="Stratakis C" first="Constantine A." last="Stratakis">Constantine A. Stratakis</name>
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