The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Identifieur interne : 001518 ( Pmc/Curation ); précédent : 001517; suivant : 001519The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Auteurs : Sarah M. Nikkel [Canada] ; Andrew Dauber [États-Unis] ; Sonja De Munnik [Pays-Bas] ; Meghan Connolly [États-Unis] ; Rebecca L. Hood [Canada] ; Oana Caluseriu [Canada] ; Jane Hurst [Royaume-Uni] ; Usha Kini [Royaume-Uni] ; Malgorzata J M. Nowaczyk [Canada] ; Alexandra Afenjar [France] ; Beate Albrecht [Allemagne] ; Judith E. Allanson [Canada] ; Paolo Balestri [Italie] ; Tawfeg Ben-Omran [Qatar] ; Francesco Brancati [Italie] ; Isabel Cordeiro [Portugal] ; Bruna Santos Da Cunha [Brésil] ; Louisa A. Delaney [Brésil] ; Anne Destrée [Belgique] ; David Fitzpatrick [Royaume-Uni] ; Francesca Forzano [Italie] ; Neeti Ghali [Royaume-Uni] ; Greta Gillies [Australie] ; Katerina Harwood [États-Unis] ; Yvonne M C. Hendriks [Pays-Bas] ; Delphine Héron [France] ; Alexander Hoischen [Pays-Bas] ; Engela Magdalena Honey [Afrique du Sud] ; Lies H. Hoefsloot [Pays-Bas] ; Jennifer Ibrahim [États-Unis] ; Claire M. Jacob [France] ; Sarina G. Kant [Pays-Bas] ; Chong Ae Kim [Brésil] ; Edwin P. Kirk [Australie] ; Nine V A M. Knoers [Pays-Bas] ; Didier Lacombe [France] ; Chung Lee [États-Unis] ; Ivan F M. Lo [République populaire de Chine] ; Luiza S. Lucas [Brésil] ; Francesca Mari [Italie] ; Veronica Mericq [Chili] ; Jukka S. Moilanen [Finlande] ; Sanne Traasdahl M Ller [Danemark] ; Stephanie Moortgat [Belgique] ; Daniela T. Pilz [Royaume-Uni] ; Kate Pope [Australie] ; Susan Price [Royaume-Uni] ; Alessandra Renieri [Italie] ; Joaquim Sá [Portugal] ; Jeroen Schoots [Pays-Bas] ; Elizabeth L. Silveira [Brésil] ; Marleen E H. Simon [Pays-Bas] ; Anne Slavotinek [États-Unis] ; I Karen Temple [Royaume-Uni] ; Ineke Van Der Burgt [Pays-Bas] ; Bert B A. De Vries [Pays-Bas] ; James D. Weisfeld-Adams [États-Unis] ; Margo L. Whiteford [Royaume-Uni] ; Dagmar Wierczorek [Allemagne] ; Jan M. Wit [Pays-Bas] ; Connie Fung On Yee [République populaire de Chine] ; Chandree L. Beaulieu [Canada] ; Sue M. White [Australie] ; Dennis E. Bulman [Canada] ; Ernie Bongers [Pays-Bas] ; Han Brunner [Pays-Bas] ; Murray Feingold [États-Unis] ; Kym M. Boycott [Canada]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2013.
Abstract
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in
Clinical information on fifty-two individuals with
This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.
Url:
DOI: 10.1186/1750-1172-8-63
PubMed: 23621943
PubMed Central: 3659005
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<wicri:regionArea>Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul</wicri:regionArea>
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<wicri:regionArea>Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul</wicri:regionArea>
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<author><name sortKey="Destree, Anne" sort="Destree, Anne" uniqKey="Destree A" first="Anne" last="Destrée">Anne Destrée</name>
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<author><name sortKey="Ghali, Neeti" sort="Ghali, Neeti" uniqKey="Ghali N" first="Neeti" last="Ghali">Neeti Ghali</name>
<affiliation wicri:level="1"><nlm:aff id="I21">North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK</nlm:aff>
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<author><name sortKey="Gillies, Greta" sort="Gillies, Greta" uniqKey="Gillies G" first="Greta" last="Gillies">Greta Gillies</name>
<affiliation wicri:level="1"><nlm:aff id="I22">Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne</wicri:regionArea>
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<author><name sortKey="Harwood, Katerina" sort="Harwood, Katerina" uniqKey="Harwood K" first="Katerina" last="Harwood">Katerina Harwood</name>
<affiliation wicri:level="1"><nlm:aff id="I23">Division of Pediatric Endocrinology, St. Joseph's Children's Hospital, Paterson, NJ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Pediatric Endocrinology, St. Joseph's Children's Hospital, Paterson, NJ</wicri:regionArea>
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<author><name sortKey="Hendriks, Yvonne M C" sort="Hendriks, Yvonne M C" uniqKey="Hendriks Y" first="Yvonne M C" last="Hendriks">Yvonne M C. Hendriks</name>
<affiliation wicri:level="1"><nlm:aff id="I24">Department of Clinical Genetics, Free University Medical Center, Amsterdam, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Free University Medical Center, Amsterdam</wicri:regionArea>
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<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique et Cytogénétique, Centre de Référence “Déficiences intellectuelles de causes rares”, University Paris 6, upmc, Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea>
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<author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<affiliation wicri:level="1"><nlm:aff id="I26">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
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<author><name sortKey="Honey, Engela Magdalena" sort="Honey, Engela Magdalena" uniqKey="Honey E" first="Engela Magdalena" last="Honey">Engela Magdalena Honey</name>
<affiliation wicri:level="1"><nlm:aff id="I27">Department Genetics, University of Pretoria, Pretoria, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department Genetics, University of Pretoria, Pretoria</wicri:regionArea>
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<author><name sortKey="Hoefsloot, Lies H" sort="Hoefsloot, Lies H" uniqKey="Hoefsloot L" first="Lies H" last="Hoefsloot">Lies H. Hoefsloot</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
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<author><name sortKey="Ibrahim, Jennifer" sort="Ibrahim, Jennifer" uniqKey="Ibrahim J" first="Jennifer" last="Ibrahim">Jennifer Ibrahim</name>
<affiliation wicri:level="1"><nlm:aff id="I28">Genetics Division, St. Joseph’s Children’s Hospital, Paterson, NJ, USA</nlm:aff>
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<wicri:regionArea>Genetics Division, St. Joseph’s Children’s Hospital, Paterson, NJ</wicri:regionArea>
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<author><name sortKey="Jacob, Claire M" sort="Jacob, Claire M" uniqKey="Jacob C" first="Claire M" last="Jacob">Claire M. Jacob</name>
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<author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G" last="Kant">Sarina G. Kant</name>
<affiliation wicri:level="1"><nlm:aff id="I30">Department of Clinical Genetics, Center for Human and Clinical genetics (CHKG), Leiden University Medical Center, Leiden, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Center for Human and Clinical genetics (CHKG), Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kim, Chong Ae" sort="Kim, Chong Ae" uniqKey="Kim C" first="Chong Ae" last="Kim">Chong Ae Kim</name>
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<wicri:regionArea>Unidade de Genética, Instituto da Criança, Hospital das Clínicas-Faculdade de Medicina Universidade de São Paulo, São Paulo</wicri:regionArea>
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<author><name sortKey="Kirk, Edwin P" sort="Kirk, Edwin P" uniqKey="Kirk E" first="Edwin P" last="Kirk">Edwin P. Kirk</name>
<affiliation wicri:level="1"><nlm:aff id="I32">Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Medical Genetics, Sydney Children's Hospital, Sydney</wicri:regionArea>
</affiliation>
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<author><name sortKey="Knoers, Nine V A M" sort="Knoers, Nine V A M" uniqKey="Knoers N" first="Nine V A M" last="Knoers">Nine V A M. Knoers</name>
<affiliation wicri:level="1"><nlm:aff id="I33">Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Medical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea>
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<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Lee, Chung" sort="Lee, Chung" uniqKey="Lee C" first="Chung" last="Lee">Chung Lee</name>
<affiliation wicri:level="1"><nlm:aff id="I35">Division of Genetics, Department of Pediatrics, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Department of Pediatrics, University of California, San Francisco, California</wicri:regionArea>
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<author><name sortKey="Lo, Ivan F M" sort="Lo, Ivan F M" uniqKey="Lo I" first="Ivan F M" last="Lo">Ivan F M. Lo</name>
<affiliation wicri:level="1"><nlm:aff id="I36">Department of Health, Clinical Genetic Service, HKSAR, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Health, Clinical Genetic Service, HKSAR</wicri:regionArea>
</affiliation>
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<author><name sortKey="Lucas, Luiza S" sort="Lucas, Luiza S" uniqKey="Lucas L" first="Luiza S" last="Lucas">Luiza S. Lucas</name>
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<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul</wicri:regionArea>
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<author><name sortKey="Mari, Francesca" sort="Mari, Francesca" uniqKey="Mari F" first="Francesca" last="Mari">Francesca Mari</name>
<affiliation wicri:level="1"><nlm:aff id="I12">Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mericq, Veronica" sort="Mericq, Veronica" uniqKey="Mericq V" first="Veronica" last="Mericq">Veronica Mericq</name>
<affiliation wicri:level="1"><nlm:aff id="I37">Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile</nlm:aff>
<country xml:lang="fr">Chili</country>
<wicri:regionArea>Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moilanen, Jukka S" sort="Moilanen, Jukka S" uniqKey="Moilanen J" first="Jukka S" last="Moilanen">Jukka S. Moilanen</name>
<affiliation wicri:level="1"><nlm:aff id="I38">Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="M Ller, Sanne Traasdahl" sort="M Ller, Sanne Traasdahl" uniqKey="M Ller S" first="Sanne Traasdahl" last="M Ller">Sanne Traasdahl M Ller</name>
<affiliation wicri:level="1"><nlm:aff id="I39">Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense C</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moortgat, Stephanie" sort="Moortgat, Stephanie" uniqKey="Moortgat S" first="Stephanie" last="Moortgat">Stephanie Moortgat</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name>
<affiliation wicri:level="1"><nlm:aff id="I40">Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 3PY, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 3PY</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pope, Kate" sort="Pope, Kate" uniqKey="Pope K" first="Kate" last="Pope">Kate Pope</name>
<affiliation wicri:level="1"><nlm:aff id="I22">Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Price, Susan" sort="Price, Susan" uniqKey="Price S" first="Susan" last="Price">Susan Price</name>
<affiliation wicri:level="1"><nlm:aff id="I41">Northampton General Hospital Trust, Northampton, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Northampton General Hospital Trust, Northampton</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name>
<affiliation wicri:level="1"><nlm:aff id="I12">Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sa, Joaquim" sort="Sa, Joaquim" uniqKey="Sa J" first="Joaquim" last="Sá">Joaquim Sá</name>
<affiliation wicri:level="1"><nlm:aff id="I42">Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea>Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra, Coimbra</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schoots, Jeroen" sort="Schoots, Jeroen" uniqKey="Schoots J" first="Jeroen" last="Schoots">Jeroen Schoots</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Silveira, Elizabeth L" sort="Silveira, Elizabeth L" uniqKey="Silveira E" first="Elizabeth L" last="Silveira">Elizabeth L. Silveira</name>
<affiliation wicri:level="1"><nlm:aff id="I43">Ambulatório de Genética Médica da Prefeitura de Porto Alegre, Porto Alegre, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Ambulatório de Genética Médica da Prefeitura de Porto Alegre, Porto Alegre</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simon, Marleen E H" sort="Simon, Marleen E H" uniqKey="Simon M" first="Marleen E H" last="Simon">Marleen E H. Simon</name>
<affiliation wicri:level="1"><nlm:aff id="I44">Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name>
<affiliation wicri:level="1"><nlm:aff id="I35">Division of Genetics, Department of Pediatrics, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Department of Pediatrics, University of California, San Francisco, California</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Temple, I Karen" sort="Temple, I Karen" uniqKey="Temple I" first="I Karen" last="Temple">I Karen Temple</name>
<affiliation wicri:level="1"><nlm:aff id="I45">Human Development and Health, Faculty of Medicine, University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Development and Health, Faculty of Medicine, University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Weisfeld Adams, James D" sort="Weisfeld Adams, James D" uniqKey="Weisfeld Adams J" first="James D" last="Weisfeld-Adams">James D. Weisfeld-Adams</name>
<affiliation wicri:level="1"><nlm:aff id="I46">Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Whiteford, Margo L" sort="Whiteford, Margo L" uniqKey="Whiteford M" first="Margo L" last="Whiteford">Margo L. Whiteford</name>
<affiliation wicri:level="1"><nlm:aff id="I47">Department of Clinical Genetics, Level 2A, Laboratory Medicine Building, Southern General Hospital, 1345 Govan Rd, Glasgow, Scotland, G51 4TF, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Level 2A, Laboratory Medicine Building, Southern General Hospital, 1345 Govan Rd, Glasgow, Scotland, G51 4TF</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wierczorek, Dagmar" sort="Wierczorek, Dagmar" uniqKey="Wierczorek D" first="Dagmar" last="Wierczorek">Dagmar Wierczorek</name>
<affiliation wicri:level="1"><nlm:aff id="I11">Institut für Humangenetik, Universitaetsklinikum Essen, Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitaetsklinikum Essen, Essen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wit, Jan M" sort="Wit, Jan M" uniqKey="Wit J" first="Jan M" last="Wit">Jan M. Wit</name>
<affiliation wicri:level="1"><nlm:aff id="I48">Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yee, Connie Fung On" sort="Yee, Connie Fung On" uniqKey="Yee C" first="Connie Fung On" last="Yee">Connie Fung On Yee</name>
<affiliation wicri:level="1"><nlm:aff id="I36">Department of Health, Clinical Genetic Service, HKSAR, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Health, Clinical Genetic Service, HKSAR</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Beaulieu, Chandree L" sort="Beaulieu, Chandree L" uniqKey="Beaulieu C" first="Chandree L" last="Beaulieu">Chandree L. Beaulieu</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="White, Sue M" sort="White, Sue M" uniqKey="White S" first="Sue M" last="White">Sue M. White</name>
<affiliation wicri:level="1"><nlm:aff id="I49">Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bongers, Ernie" sort="Bongers, Ernie" uniqKey="Bongers E" first="Ernie" last="Bongers">Ernie Bongers</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brunner, Han" sort="Brunner, Han" uniqKey="Brunner H" first="Han" last="Brunner">Han Brunner</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Feingold, Murray" sort="Feingold, Murray" uniqKey="Feingold M" first="Murray" last="Feingold">Murray Feingold</name>
<affiliation wicri:level="1"><nlm:aff id="I50">Division of Genetics, Boston Children’s Hospital, Boston, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Boston Children’s Hospital, Boston</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M" last="Boycott">Kym M. Boycott</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">23621943</idno>
<idno type="pmc">3659005</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659005</idno>
<idno type="RBID">PMC:3659005</idno>
<idno type="doi">10.1186/1750-1172-8-63</idno>
<date when="2013">2013</date>
<idno type="wicri:Area/Pmc/Corpus">001658</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of <italic>SRCAP</italic>
</title>
<author><name sortKey="Nikkel, Sarah M" sort="Nikkel, Sarah M" uniqKey="Nikkel S" first="Sarah M" last="Nikkel">Sarah M. Nikkel</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dauber, Andrew" sort="Dauber, Andrew" uniqKey="Dauber A" first="Andrew" last="Dauber">Andrew Dauber</name>
<affiliation wicri:level="1"><nlm:aff id="I2">Division of Endocrinology, Boston Children's Hospital, Boston, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Endocrinology, Boston Children's Hospital, Boston</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="De Munnik, Sonja" sort="De Munnik, Sonja" uniqKey="De Munnik S" first="Sonja" last="De Munnik">Sonja De Munnik</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Connolly, Meghan" sort="Connolly, Meghan" uniqKey="Connolly M" first="Meghan" last="Connolly">Meghan Connolly</name>
<affiliation wicri:level="1"><nlm:aff id="I4">Division of Genetics, Boston Children’s Hospital and The Manton Center for Orphan Disease Research at Children’s Hospital, Boston, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Boston Children’s Hospital and The Manton Center for Orphan Disease Research at Children’s Hospital, Boston</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hood, Rebecca L" sort="Hood, Rebecca L" uniqKey="Hood R" first="Rebecca L" last="Hood">Rebecca L. Hood</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Caluseriu, Oana" sort="Caluseriu, Oana" uniqKey="Caluseriu O" first="Oana" last="Caluseriu">Oana Caluseriu</name>
<affiliation wicri:level="1"><nlm:aff id="I6">Department of Medical Genetics, University of Alberta, Edmonton, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of Alberta, Edmonton</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hurst, Jane" sort="Hurst, Jane" uniqKey="Hurst J" first="Jane" last="Hurst">Jane Hurst</name>
<affiliation wicri:level="1"><nlm:aff id="I7">NE Thames Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>NE Thames Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kini, Usha" sort="Kini, Usha" uniqKey="Kini U" first="Usha" last="Kini">Usha Kini</name>
<affiliation wicri:level="1"><nlm:aff id="I8">Oxford University Hospitals NHS Trust, Oxford, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Oxford University Hospitals NHS Trust, Oxford</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nowaczyk, Malgorzata J M" sort="Nowaczyk, Malgorzata J M" uniqKey="Nowaczyk M" first="Malgorzata J M" last="Nowaczyk">Malgorzata J M. Nowaczyk</name>
<affiliation wicri:level="1"><nlm:aff id="I9">McMaster University Medical Centre, Hamilton, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>McMaster University Medical Centre, Hamilton</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Afenjar, Alexandra" sort="Afenjar, Alexandra" uniqKey="Afenjar A" first="Alexandra" last="Afenjar">Alexandra Afenjar</name>
<affiliation wicri:level="1"><nlm:aff id="I10">Service de Neuropédiatrie AP-HP, Centre de Référence des anomalies de développement et syndromes malformatifs, Hôpital Armand Trousseau, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Neuropédiatrie AP-HP, Centre de Référence des anomalies de développement et syndromes malformatifs, Hôpital Armand Trousseau, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Albrecht, Beate" sort="Albrecht, Beate" uniqKey="Albrecht B" first="Beate" last="Albrecht">Beate Albrecht</name>
<affiliation wicri:level="1"><nlm:aff id="I11">Institut für Humangenetik, Universitaetsklinikum Essen, Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitaetsklinikum Essen, Essen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Allanson, Judith E" sort="Allanson, Judith E" uniqKey="Allanson J" first="Judith E" last="Allanson">Judith E. Allanson</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Balestri, Paolo" sort="Balestri, Paolo" uniqKey="Balestri P" first="Paolo" last="Balestri">Paolo Balestri</name>
<affiliation wicri:level="1"><nlm:aff id="I12">Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ben Omran, Tawfeg" sort="Ben Omran, Tawfeg" uniqKey="Ben Omran T" first="Tawfeg" last="Ben-Omran">Tawfeg Ben-Omran</name>
<affiliation wicri:level="1"><nlm:aff id="I13">Department of Paediatrics, Hamad Medical Corporation, Clinical and Metabolic Genetics, Doha, Qatar</nlm:aff>
<country xml:lang="fr">Qatar</country>
<wicri:regionArea>Department of Paediatrics, Hamad Medical Corporation, Clinical and Metabolic Genetics, Doha</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name>
<affiliation wicri:level="1"><nlm:aff id="I14">Policlinico Tor Vergata University Hospital, Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Policlinico Tor Vergata University Hospital, Rome</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I15">Department of Medical, Oral and Technological Sciences, D’Annunzio University, Chieti, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Medical, Oral and Technological Sciences, D’Annunzio University, Chieti</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cordeiro, Isabel" sort="Cordeiro, Isabel" uniqKey="Cordeiro I" first="Isabel" last="Cordeiro">Isabel Cordeiro</name>
<affiliation wicri:level="1"><nlm:aff id="I16">Hospital de Santa Maria Lisboa, Lisbon, Portugal</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea>Hospital de Santa Maria Lisboa, Lisbon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Da Cunha, Bruna Santos" sort="Da Cunha, Bruna Santos" uniqKey="Da Cunha B" first="Bruna Santos" last="Da Cunha">Bruna Santos Da Cunha</name>
<affiliation wicri:level="1"><nlm:aff id="I17">Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Delaney, Louisa A" sort="Delaney, Louisa A" uniqKey="Delaney L" first="Louisa A" last="Delaney">Louisa A. Delaney</name>
<affiliation wicri:level="1"><nlm:aff id="I17">Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Destree, Anne" sort="Destree, Anne" uniqKey="Destree A" first="Anne" last="Destrée">Anne Destrée</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fitzpatrick, David" sort="Fitzpatrick, David" uniqKey="Fitzpatrick D" first="David" last="Fitzpatrick">David Fitzpatrick</name>
<affiliation wicri:level="2"><nlm:aff id="I19">MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh, Scotland</nlm:aff>
<country>Royaume-Uni</country>
<placeName><region type="country">Écosse</region>
</placeName>
<wicri:cityArea>MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Forzano, Francesca" sort="Forzano, Francesca" uniqKey="Forzano F" first="Francesca" last="Forzano">Francesca Forzano</name>
<affiliation wicri:level="1"><nlm:aff id="I20">Medical Genetics Unit, Galliera Hospital, Genova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Medical Genetics Unit, Galliera Hospital, Genova</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ghali, Neeti" sort="Ghali, Neeti" uniqKey="Ghali N" first="Neeti" last="Ghali">Neeti Ghali</name>
<affiliation wicri:level="1"><nlm:aff id="I21">North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gillies, Greta" sort="Gillies, Greta" uniqKey="Gillies G" first="Greta" last="Gillies">Greta Gillies</name>
<affiliation wicri:level="1"><nlm:aff id="I22">Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Harwood, Katerina" sort="Harwood, Katerina" uniqKey="Harwood K" first="Katerina" last="Harwood">Katerina Harwood</name>
<affiliation wicri:level="1"><nlm:aff id="I23">Division of Pediatric Endocrinology, St. Joseph's Children's Hospital, Paterson, NJ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Pediatric Endocrinology, St. Joseph's Children's Hospital, Paterson, NJ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hendriks, Yvonne M C" sort="Hendriks, Yvonne M C" uniqKey="Hendriks Y" first="Yvonne M C" last="Hendriks">Yvonne M C. Hendriks</name>
<affiliation wicri:level="1"><nlm:aff id="I24">Department of Clinical Genetics, Free University Medical Center, Amsterdam, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Free University Medical Center, Amsterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Heron, Delphine" sort="Heron, Delphine" uniqKey="Heron D" first="Delphine" last="Héron">Delphine Héron</name>
<affiliation wicri:level="1"><nlm:aff id="I25">Département de Génétique et Cytogénétique, Centre de Référence “Déficiences intellectuelles de causes rares”, University Paris 6, upmc, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Génétique et Cytogénétique, Centre de Référence “Déficiences intellectuelles de causes rares”, University Paris 6, upmc, Groupe Hospitalier Pitié-Salpêtrière, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hoischen, Alexander" sort="Hoischen, Alexander" uniqKey="Hoischen A" first="Alexander" last="Hoischen">Alexander Hoischen</name>
<affiliation wicri:level="1"><nlm:aff id="I26">Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Honey, Engela Magdalena" sort="Honey, Engela Magdalena" uniqKey="Honey E" first="Engela Magdalena" last="Honey">Engela Magdalena Honey</name>
<affiliation wicri:level="1"><nlm:aff id="I27">Department Genetics, University of Pretoria, Pretoria, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department Genetics, University of Pretoria, Pretoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hoefsloot, Lies H" sort="Hoefsloot, Lies H" uniqKey="Hoefsloot L" first="Lies H" last="Hoefsloot">Lies H. Hoefsloot</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ibrahim, Jennifer" sort="Ibrahim, Jennifer" uniqKey="Ibrahim J" first="Jennifer" last="Ibrahim">Jennifer Ibrahim</name>
<affiliation wicri:level="1"><nlm:aff id="I28">Genetics Division, St. Joseph’s Children’s Hospital, Paterson, NJ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genetics Division, St. Joseph’s Children’s Hospital, Paterson, NJ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jacob, Claire M" sort="Jacob, Claire M" uniqKey="Jacob C" first="Claire M" last="Jacob">Claire M. Jacob</name>
<affiliation wicri:level="1"><nlm:aff id="I29">Service Neurogenetique, Hopital Pitie Salpetriere, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service Neurogenetique, Hopital Pitie Salpetriere, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kant, Sarina G" sort="Kant, Sarina G" uniqKey="Kant S" first="Sarina G" last="Kant">Sarina G. Kant</name>
<affiliation wicri:level="1"><nlm:aff id="I30">Department of Clinical Genetics, Center for Human and Clinical genetics (CHKG), Leiden University Medical Center, Leiden, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Center for Human and Clinical genetics (CHKG), Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kim, Chong Ae" sort="Kim, Chong Ae" uniqKey="Kim C" first="Chong Ae" last="Kim">Chong Ae Kim</name>
<affiliation wicri:level="1"><nlm:aff id="I31">Unidade de Genética, Instituto da Criança, Hospital das Clínicas-Faculdade de Medicina Universidade de São Paulo, São Paulo, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Unidade de Genética, Instituto da Criança, Hospital das Clínicas-Faculdade de Medicina Universidade de São Paulo, São Paulo</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kirk, Edwin P" sort="Kirk, Edwin P" uniqKey="Kirk E" first="Edwin P" last="Kirk">Edwin P. Kirk</name>
<affiliation wicri:level="1"><nlm:aff id="I32">Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Medical Genetics, Sydney Children's Hospital, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Knoers, Nine V A M" sort="Knoers, Nine V A M" uniqKey="Knoers N" first="Nine V A M" last="Knoers">Nine V A M. Knoers</name>
<affiliation wicri:level="1"><nlm:aff id="I33">Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Medical Genetics, University Medical Center Utrecht, Utrecht</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lacombe, Didier" sort="Lacombe, Didier" uniqKey="Lacombe D" first="Didier" last="Lacombe">Didier Lacombe</name>
<affiliation wicri:level="1"><nlm:aff id="I34">Laboratoire Maladies Rares: Génétique et Métabolisme, Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire Maladies Rares: Génétique et Métabolisme, Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Bordeaux</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lee, Chung" sort="Lee, Chung" uniqKey="Lee C" first="Chung" last="Lee">Chung Lee</name>
<affiliation wicri:level="1"><nlm:aff id="I35">Division of Genetics, Department of Pediatrics, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Department of Pediatrics, University of California, San Francisco, California</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lo, Ivan F M" sort="Lo, Ivan F M" uniqKey="Lo I" first="Ivan F M" last="Lo">Ivan F M. Lo</name>
<affiliation wicri:level="1"><nlm:aff id="I36">Department of Health, Clinical Genetic Service, HKSAR, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Health, Clinical Genetic Service, HKSAR</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lucas, Luiza S" sort="Lucas, Luiza S" uniqKey="Lucas L" first="Luiza S" last="Lucas">Luiza S. Lucas</name>
<affiliation wicri:level="1"><nlm:aff id="I17">Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mari, Francesca" sort="Mari, Francesca" uniqKey="Mari F" first="Francesca" last="Mari">Francesca Mari</name>
<affiliation wicri:level="1"><nlm:aff id="I12">Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mericq, Veronica" sort="Mericq, Veronica" uniqKey="Mericq V" first="Veronica" last="Mericq">Veronica Mericq</name>
<affiliation wicri:level="1"><nlm:aff id="I37">Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile</nlm:aff>
<country xml:lang="fr">Chili</country>
<wicri:regionArea>Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moilanen, Jukka S" sort="Moilanen, Jukka S" uniqKey="Moilanen J" first="Jukka S" last="Moilanen">Jukka S. Moilanen</name>
<affiliation wicri:level="1"><nlm:aff id="I38">Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="M Ller, Sanne Traasdahl" sort="M Ller, Sanne Traasdahl" uniqKey="M Ller S" first="Sanne Traasdahl" last="M Ller">Sanne Traasdahl M Ller</name>
<affiliation wicri:level="1"><nlm:aff id="I39">Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense C</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moortgat, Stephanie" sort="Moortgat, Stephanie" uniqKey="Moortgat S" first="Stephanie" last="Moortgat">Stephanie Moortgat</name>
<affiliation wicri:level="1"><nlm:aff id="I18">Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041, Belgium</nlm:aff>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pilz, Daniela T" sort="Pilz, Daniela T" uniqKey="Pilz D" first="Daniela T" last="Pilz">Daniela T. Pilz</name>
<affiliation wicri:level="1"><nlm:aff id="I40">Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 3PY, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 3PY</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pope, Kate" sort="Pope, Kate" uniqKey="Pope K" first="Kate" last="Pope">Kate Pope</name>
<affiliation wicri:level="1"><nlm:aff id="I22">Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Price, Susan" sort="Price, Susan" uniqKey="Price S" first="Susan" last="Price">Susan Price</name>
<affiliation wicri:level="1"><nlm:aff id="I41">Northampton General Hospital Trust, Northampton, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Northampton General Hospital Trust, Northampton</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name>
<affiliation wicri:level="1"><nlm:aff id="I12">Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sa, Joaquim" sort="Sa, Joaquim" uniqKey="Sa J" first="Joaquim" last="Sá">Joaquim Sá</name>
<affiliation wicri:level="1"><nlm:aff id="I42">Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal</nlm:aff>
<country xml:lang="fr">Portugal</country>
<wicri:regionArea>Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra, Coimbra</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schoots, Jeroen" sort="Schoots, Jeroen" uniqKey="Schoots J" first="Jeroen" last="Schoots">Jeroen Schoots</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Silveira, Elizabeth L" sort="Silveira, Elizabeth L" uniqKey="Silveira E" first="Elizabeth L" last="Silveira">Elizabeth L. Silveira</name>
<affiliation wicri:level="1"><nlm:aff id="I43">Ambulatório de Genética Médica da Prefeitura de Porto Alegre, Porto Alegre, Brazil</nlm:aff>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>Ambulatório de Genética Médica da Prefeitura de Porto Alegre, Porto Alegre</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Simon, Marleen E H" sort="Simon, Marleen E H" uniqKey="Simon M" first="Marleen E H" last="Simon">Marleen E H. Simon</name>
<affiliation wicri:level="1"><nlm:aff id="I44">Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Slavotinek, Anne" sort="Slavotinek, Anne" uniqKey="Slavotinek A" first="Anne" last="Slavotinek">Anne Slavotinek</name>
<affiliation wicri:level="1"><nlm:aff id="I35">Division of Genetics, Department of Pediatrics, University of California, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Department of Pediatrics, University of California, San Francisco, California</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Temple, I Karen" sort="Temple, I Karen" uniqKey="Temple I" first="I Karen" last="Temple">I Karen Temple</name>
<affiliation wicri:level="1"><nlm:aff id="I45">Human Development and Health, Faculty of Medicine, University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Development and Health, Faculty of Medicine, University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Van Der Burgt, Ineke" sort="Van Der Burgt, Ineke" uniqKey="Van Der Burgt I" first="Ineke" last="Van Der Burgt">Ineke Van Der Burgt</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Weisfeld Adams, James D" sort="Weisfeld Adams, James D" uniqKey="Weisfeld Adams J" first="James D" last="Weisfeld-Adams">James D. Weisfeld-Adams</name>
<affiliation wicri:level="1"><nlm:aff id="I46">Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Whiteford, Margo L" sort="Whiteford, Margo L" uniqKey="Whiteford M" first="Margo L" last="Whiteford">Margo L. Whiteford</name>
<affiliation wicri:level="1"><nlm:aff id="I47">Department of Clinical Genetics, Level 2A, Laboratory Medicine Building, Southern General Hospital, 1345 Govan Rd, Glasgow, Scotland, G51 4TF, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Level 2A, Laboratory Medicine Building, Southern General Hospital, 1345 Govan Rd, Glasgow, Scotland, G51 4TF</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wierczorek, Dagmar" sort="Wierczorek, Dagmar" uniqKey="Wierczorek D" first="Dagmar" last="Wierczorek">Dagmar Wierczorek</name>
<affiliation wicri:level="1"><nlm:aff id="I11">Institut für Humangenetik, Universitaetsklinikum Essen, Essen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Universitaetsklinikum Essen, Essen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wit, Jan M" sort="Wit, Jan M" uniqKey="Wit J" first="Jan M" last="Wit">Jan M. Wit</name>
<affiliation wicri:level="1"><nlm:aff id="I48">Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Yee, Connie Fung On" sort="Yee, Connie Fung On" uniqKey="Yee C" first="Connie Fung On" last="Yee">Connie Fung On Yee</name>
<affiliation wicri:level="1"><nlm:aff id="I36">Department of Health, Clinical Genetic Service, HKSAR, China</nlm:aff>
<country xml:lang="fr">République populaire de Chine</country>
<wicri:regionArea>Department of Health, Clinical Genetic Service, HKSAR</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Beaulieu, Chandree L" sort="Beaulieu, Chandree L" uniqKey="Beaulieu C" first="Chandree L" last="Beaulieu">Chandree L. Beaulieu</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="White, Sue M" sort="White, Sue M" uniqKey="White S" first="Sue M" last="White">Sue M. White</name>
<affiliation wicri:level="1"><nlm:aff id="I49">Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bulman, Dennis E" sort="Bulman, Dennis E" uniqKey="Bulman D" first="Dennis E" last="Bulman">Dennis E. Bulman</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bongers, Ernie" sort="Bongers, Ernie" uniqKey="Bongers E" first="Ernie" last="Bongers">Ernie Bongers</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brunner, Han" sort="Brunner, Han" uniqKey="Brunner H" first="Han" last="Brunner">Han Brunner</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Feingold, Murray" sort="Feingold, Murray" uniqKey="Feingold M" first="Murray" last="Feingold">Murray Feingold</name>
<affiliation wicri:level="1"><nlm:aff id="I50">Division of Genetics, Boston Children’s Hospital, Boston, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics, Boston Children’s Hospital, Boston</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boycott, Kym M" sort="Boycott, Kym M" uniqKey="Boycott K" first="Kym M" last="Boycott">Kym M. Boycott</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="I5">Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">Orphanet Journal of Rare Diseases</title>
<idno type="eISSN">1750-1172</idno>
<imprint><date when="2013">2013</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in <italic>SRCAP</italic>
were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome.</p>
</sec>
<sec><title>Methods and results</title>
<p>Clinical information on fifty-two individuals with <italic>SRCAP</italic>
mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations.</p>
</sec>
<sec><title>Conclusions</title>
<p>This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.</p>
</sec>
</div>
</front>
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</back>
</TEI>
<pmc article-type="research-article" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Orphanet J Rare Dis</journal-id>
<journal-id journal-id-type="iso-abbrev">Orphanet J Rare Dis</journal-id>
<journal-title-group><journal-title>Orphanet Journal of Rare Diseases</journal-title>
</journal-title-group>
<issn pub-type="epub">1750-1172</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23621943</article-id>
<article-id pub-id-type="pmc">3659005</article-id>
<article-id pub-id-type="publisher-id">1750-1172-8-63</article-id>
<article-id pub-id-type="doi">10.1186/1750-1172-8-63</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research</subject>
</subj-group>
</article-categories>
<title-group><article-title>The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of <italic>SRCAP</italic>
</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes" id="A1"><name><surname>Nikkel</surname>
<given-names>Sarah M</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>snikkel@cheo.on.ca</email>
</contrib>
<contrib contrib-type="author" id="A2"><name><surname>Dauber</surname>
<given-names>Andrew</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<email>Andrew.Dauber@childrens.harvard.edu</email>
</contrib>
<contrib contrib-type="author" id="A3"><name><surname>de Munnik</surname>
<given-names>Sonja</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<email>S.deMunnik@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A4"><name><surname>Connolly</surname>
<given-names>Meghan</given-names>
</name>
<xref ref-type="aff" rid="I4">4</xref>
<email>Meghan.Connolly@childrens.harvard.edu</email>
</contrib>
<contrib contrib-type="author" id="A5"><name><surname>Hood</surname>
<given-names>Rebecca L</given-names>
</name>
<xref ref-type="aff" rid="I5">5</xref>
<email>hoodreb@gmail.com</email>
</contrib>
<contrib contrib-type="author" id="A6"><name><surname>Caluseriu</surname>
<given-names>Oana</given-names>
</name>
<xref ref-type="aff" rid="I6">6</xref>
<email>Oana.Caluseriu@albertahealthservices.ca</email>
</contrib>
<contrib contrib-type="author" id="A7"><name><surname>Hurst</surname>
<given-names>Jane</given-names>
</name>
<xref ref-type="aff" rid="I7">7</xref>
<email>Jane.Hurst@gosh.nhs.uk</email>
</contrib>
<contrib contrib-type="author" id="A8"><name><surname>Kini</surname>
<given-names>Usha</given-names>
</name>
<xref ref-type="aff" rid="I8">8</xref>
<email>Usha.Kini@ouh.nhs.uk</email>
</contrib>
<contrib contrib-type="author" id="A9"><name><surname>Nowaczyk</surname>
<given-names>Malgorzata J M</given-names>
</name>
<xref ref-type="aff" rid="I9">9</xref>
<email>nowaczyk@hhsc.ca</email>
</contrib>
<contrib contrib-type="author" id="A10"><name><surname>Afenjar</surname>
<given-names>Alexandra</given-names>
</name>
<xref ref-type="aff" rid="I10">10</xref>
<email>alexandra.afenjar@trs.aphp.fr</email>
</contrib>
<contrib contrib-type="author" id="A11"><name><surname>Albrecht</surname>
<given-names>Beate</given-names>
</name>
<xref ref-type="aff" rid="I11">11</xref>
<email>beate.albrecht@uni-essen.de</email>
</contrib>
<contrib contrib-type="author" id="A12"><name><surname>Allanson</surname>
<given-names>Judith E</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>allanson@cheo.on.ca</email>
</contrib>
<contrib contrib-type="author" id="A13"><name><surname>Balestri</surname>
<given-names>Paolo</given-names>
</name>
<xref ref-type="aff" rid="I12">12</xref>
<email>balestri@unisi.it</email>
</contrib>
<contrib contrib-type="author" id="A14"><name><surname>Ben-Omran</surname>
<given-names>Tawfeg</given-names>
</name>
<xref ref-type="aff" rid="I13">13</xref>
<email>tawben11@hotmail.com</email>
</contrib>
<contrib contrib-type="author" id="A15"><name><surname>Brancati</surname>
<given-names>Francesco</given-names>
</name>
<xref ref-type="aff" rid="I14">14</xref>
<xref ref-type="aff" rid="I15">15</xref>
<email>f.brancati@css-mendel.it</email>
</contrib>
<contrib contrib-type="author" id="A16"><name><surname>Cordeiro</surname>
<given-names>Isabel</given-names>
</name>
<xref ref-type="aff" rid="I16">16</xref>
<email>isabel.cordeiro@hsm.min-saude.pt</email>
</contrib>
<contrib contrib-type="author" id="A17"><name><surname>da Cunha</surname>
<given-names>Bruna Santos</given-names>
</name>
<xref ref-type="aff" rid="I17">17</xref>
<email>brunasantosc@hotmail.com</email>
</contrib>
<contrib contrib-type="author" id="A18"><name><surname>Delaney</surname>
<given-names>Louisa A</given-names>
</name>
<xref ref-type="aff" rid="I17">17</xref>
<email>louisadelaney@hotmail.com</email>
</contrib>
<contrib contrib-type="author" id="A19"><name><surname>Destrée</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="I18">18</xref>
<email>anne.destree@ipg.be</email>
</contrib>
<contrib contrib-type="author" id="A20"><name><surname>Fitzpatrick</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="I19">19</xref>
<email>David.FitzPatrick@igmm.ed.ac.uk</email>
</contrib>
<contrib contrib-type="author" id="A21"><name><surname>Forzano</surname>
<given-names>Francesca</given-names>
</name>
<xref ref-type="aff" rid="I20">20</xref>
<email>forzanof@galliera.it</email>
</contrib>
<contrib contrib-type="author" id="A22"><name><surname>Ghali</surname>
<given-names>Neeti</given-names>
</name>
<xref ref-type="aff" rid="I21">21</xref>
<email>neeti.ghali@nhs.net</email>
</contrib>
<contrib contrib-type="author" id="A23"><name><surname>Gillies</surname>
<given-names>Greta</given-names>
</name>
<xref ref-type="aff" rid="I22">22</xref>
<email>greta.gillies@mcri.edu.au</email>
</contrib>
<contrib contrib-type="author" id="A24"><name><surname>Harwood</surname>
<given-names>Katerina</given-names>
</name>
<xref ref-type="aff" rid="I23">23</xref>
<email>harwoodk@sjhmc.org</email>
</contrib>
<contrib contrib-type="author" id="A25"><name><surname>Hendriks</surname>
<given-names>Yvonne M C</given-names>
</name>
<xref ref-type="aff" rid="I24">24</xref>
<email>y.hendriks@vumc.nl</email>
</contrib>
<contrib contrib-type="author" id="A26"><name><surname>Héron</surname>
<given-names>Delphine</given-names>
</name>
<xref ref-type="aff" rid="I25">25</xref>
<email>delphine.heron@psl.aphp.fr</email>
</contrib>
<contrib contrib-type="author" id="A27"><name><surname>Hoischen</surname>
<given-names>Alexander</given-names>
</name>
<xref ref-type="aff" rid="I26">26</xref>
<email>a.hoischen@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A28"><name><surname>Honey</surname>
<given-names>Engela Magdalena</given-names>
</name>
<xref ref-type="aff" rid="I27">27</xref>
<email>engela.honey@up.ac.za</email>
</contrib>
<contrib contrib-type="author" id="A29"><name><surname>Hoefsloot</surname>
<given-names>Lies H</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<email>l.hoefsloot@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A30"><name><surname>Ibrahim</surname>
<given-names>Jennifer</given-names>
</name>
<xref ref-type="aff" rid="I28">28</xref>
<email>ibrahimj@sjhmc.org</email>
</contrib>
<contrib contrib-type="author" id="A31"><name><surname>Jacob</surname>
<given-names>Claire M</given-names>
</name>
<xref ref-type="aff" rid="I29">29</xref>
<email>claire.mehlerjacob@gmail.com</email>
</contrib>
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<given-names>Sarina G</given-names>
</name>
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<email>s.g.kant@lumc.nl</email>
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<given-names>Chong Ae</given-names>
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<email>Chong.kim@icr.usp.br</email>
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<given-names>Edwin P</given-names>
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<given-names>Nine V A M</given-names>
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<email>LeeC@peds.ucsf.edu</email>
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<given-names>Luiza S</given-names>
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<email>luizalucas@gmail.com</email>
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<given-names>Francesca</given-names>
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<email>mari@unisi.it</email>
</contrib>
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<given-names>Veronica</given-names>
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<given-names>Jukka S</given-names>
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<email>jukka.moilanen@oulu.fi</email>
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<given-names>Sanne Traasdahl</given-names>
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<email>stephanie.moortgat@ipg.be</email>
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<given-names>Daniela T</given-names>
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<email>PilzDT@cardiff.ac.uk</email>
</contrib>
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<given-names>Kate</given-names>
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<email>kate.pope@mcri.edu.au</email>
</contrib>
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<given-names>Susan</given-names>
</name>
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<email>Sue.Price@ngh.nhs.uk</email>
</contrib>
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<given-names>Alessandra</given-names>
</name>
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<email>alessandra.renieri@unisi.it</email>
</contrib>
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<given-names>Joaquim</given-names>
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<email>correiodoquim@gmail.com</email>
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<given-names>Jeroen</given-names>
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<email>j.schoots@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A51"><name><surname>Silveira</surname>
<given-names>Elizabeth L</given-names>
</name>
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<email>bethlsilveira@gmail.com</email>
</contrib>
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<given-names>Marleen E H</given-names>
</name>
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<email>m.simon@erasmusmc.nl</email>
</contrib>
<contrib contrib-type="author" id="A53"><name><surname>Slavotinek</surname>
<given-names>Anne</given-names>
</name>
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<email>SlavotiA@peds.ucsf.edu</email>
</contrib>
<contrib contrib-type="author" id="A54"><name><surname>Temple</surname>
<given-names>I Karen</given-names>
</name>
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<email>ikt@soton.ac.uk</email>
</contrib>
<contrib contrib-type="author" id="A55"><name><surname>van der Burgt</surname>
<given-names>Ineke</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<email>i.vanderburgt@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A56"><name><surname>de Vries</surname>
<given-names>Bert B A</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<email>b.devries@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A57"><name><surname>Weisfeld-Adams</surname>
<given-names>James D</given-names>
</name>
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<email>jamesweisfeldadams@gmail.com</email>
</contrib>
<contrib contrib-type="author" id="A58"><name><surname>Whiteford</surname>
<given-names>Margo L</given-names>
</name>
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<email>margo.whiteford@ggc.scot.nhs.uk</email>
</contrib>
<contrib contrib-type="author" id="A59"><name><surname>Wierczorek</surname>
<given-names>Dagmar</given-names>
</name>
<xref ref-type="aff" rid="I11">11</xref>
<email>dagmar.wieczorek@uni-due.de</email>
</contrib>
<contrib contrib-type="author" id="A60"><name><surname>Wit</surname>
<given-names>Jan M</given-names>
</name>
<xref ref-type="aff" rid="I48">48</xref>
<email>J.M.Wit@lumc.nl</email>
</contrib>
<contrib contrib-type="author" id="A61"><name><surname>Yee</surname>
<given-names>Connie Fung On</given-names>
</name>
<xref ref-type="aff" rid="I36">36</xref>
<email>conniefoy@gmail.com</email>
</contrib>
<contrib contrib-type="author" id="A62"><name><surname>Beaulieu</surname>
<given-names>Chandree L</given-names>
</name>
<xref ref-type="aff" rid="I5">5</xref>
<email>cbeaulieu@cheo.on.ca</email>
</contrib>
<contrib contrib-type="author" id="A63"><collab>FORGE Canada Consortium</collab>
<xref ref-type="aff" rid="I5">5</xref>
<email>cpgdsconsortium@cheo.on.ca</email>
</contrib>
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<given-names>Sue M</given-names>
</name>
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<email>sue.white@ghsv.org.au</email>
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<given-names>Dennis E</given-names>
</name>
<xref ref-type="aff" rid="I5">5</xref>
<email>dbulman@cheo.on.ca</email>
</contrib>
<contrib contrib-type="author" id="A66"><name><surname>Bongers</surname>
<given-names>Ernie</given-names>
</name>
<xref ref-type="aff" rid="I3">3</xref>
<email>e.bongers@gen.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A67"><name><surname>Brunner</surname>
<given-names>Han</given-names>
</name>
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<email>H.Brunner@antrg.umcn.nl</email>
</contrib>
<contrib contrib-type="author" id="A68"><name><surname>Feingold</surname>
<given-names>Murray</given-names>
</name>
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<email>murfei444@aol.com</email>
</contrib>
<contrib contrib-type="author" id="A69"><name><surname>Boycott</surname>
<given-names>Kym M</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
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<email>kboycott@cheo.on.ca</email>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
Children’s Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H 8L1, Canada</aff>
<aff id="I2"><label>2</label>
Division of Endocrinology, Boston Children's Hospital, Boston, USA</aff>
<aff id="I3"><label>3</label>
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</aff>
<aff id="I4"><label>4</label>
Division of Genetics, Boston Children’s Hospital and The Manton Center for Orphan Disease Research at Children’s Hospital, Boston, USA</aff>
<aff id="I5"><label>5</label>
Children’s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada</aff>
<aff id="I6"><label>6</label>
Department of Medical Genetics, University of Alberta, Edmonton, Canada</aff>
<aff id="I7"><label>7</label>
NE Thames Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, UK</aff>
<aff id="I8"><label>8</label>
Oxford University Hospitals NHS Trust, Oxford, UK</aff>
<aff id="I9"><label>9</label>
McMaster University Medical Centre, Hamilton, Canada</aff>
<aff id="I10"><label>10</label>
Service de Neuropédiatrie AP-HP, Centre de Référence des anomalies de développement et syndromes malformatifs, Hôpital Armand Trousseau, Paris, France</aff>
<aff id="I11"><label>11</label>
Institut für Humangenetik, Universitaetsklinikum Essen, Essen, Germany</aff>
<aff id="I12"><label>12</label>
Department of Molecular Biology University of Siena, Medical Genetics Unit, Siena, Italy</aff>
<aff id="I13"><label>13</label>
Department of Paediatrics, Hamad Medical Corporation, Clinical and Metabolic Genetics, Doha, Qatar</aff>
<aff id="I14"><label>14</label>
Policlinico Tor Vergata University Hospital, Rome, Italy</aff>
<aff id="I15"><label>15</label>
Department of Medical, Oral and Technological Sciences, D’Annunzio University, Chieti, Italy</aff>
<aff id="I16"><label>16</label>
Hospital de Santa Maria Lisboa, Lisbon, Portugal</aff>
<aff id="I17"><label>17</label>
Faculdade de Medicina da Pontifícia Universidade Católica do Rio Grande do Sul, Rio Grande do Sul, Brazil</aff>
<aff id="I18"><label>18</label>
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, B-6041, Belgium</aff>
<aff id="I19"><label>19</label>
MRC Human Genetics Unit MRC IGMM, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh, Scotland</aff>
<aff id="I20"><label>20</label>
Medical Genetics Unit, Galliera Hospital, Genova, Italy</aff>
<aff id="I21"><label>21</label>
North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK</aff>
<aff id="I22"><label>22</label>
Bruce Lefroy Centre, Murdoch Childrens Research Institute, Royal Children’s Hospital, Melbourne, Australia</aff>
<aff id="I23"><label>23</label>
Division of Pediatric Endocrinology, St. Joseph's Children's Hospital, Paterson, NJ, USA</aff>
<aff id="I24"><label>24</label>
Department of Clinical Genetics, Free University Medical Center, Amsterdam, the Netherlands</aff>
<aff id="I25"><label>25</label>
Département de Génétique et Cytogénétique, Centre de Référence “Déficiences intellectuelles de causes rares”, University Paris 6, upmc, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</aff>
<aff id="I26"><label>26</label>
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands</aff>
<aff id="I27"><label>27</label>
Department Genetics, University of Pretoria, Pretoria, South Africa</aff>
<aff id="I28"><label>28</label>
Genetics Division, St. Joseph’s Children’s Hospital, Paterson, NJ, USA</aff>
<aff id="I29"><label>29</label>
Service Neurogenetique, Hopital Pitie Salpetriere, Paris, France</aff>
<aff id="I30"><label>30</label>
Department of Clinical Genetics, Center for Human and Clinical genetics (CHKG), Leiden University Medical Center, Leiden, The Netherlands</aff>
<aff id="I31"><label>31</label>
Unidade de Genética, Instituto da Criança, Hospital das Clínicas-Faculdade de Medicina Universidade de São Paulo, São Paulo, Brazil</aff>
<aff id="I32"><label>32</label>
Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia</aff>
<aff id="I33"><label>33</label>
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands</aff>
<aff id="I34"><label>34</label>
Laboratoire Maladies Rares: Génétique et Métabolisme, Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, University of Bordeaux, Bordeaux, France</aff>
<aff id="I35"><label>35</label>
Division of Genetics, Department of Pediatrics, University of California, San Francisco, California, USA</aff>
<aff id="I36"><label>36</label>
Department of Health, Clinical Genetic Service, HKSAR, China</aff>
<aff id="I37"><label>37</label>
Institute of Maternal and Child Research, Faculty of Medicine, University of Chile, Santiago, Chile</aff>
<aff id="I38"><label>38</label>
Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu, Finland</aff>
<aff id="I39"><label>39</label>
Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark</aff>
<aff id="I40"><label>40</label>
Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 3PY, UK</aff>
<aff id="I41"><label>41</label>
Northampton General Hospital Trust, Northampton, UK</aff>
<aff id="I42"><label>42</label>
Serviço de Genética Médica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal</aff>
<aff id="I43"><label>43</label>
Ambulatório de Genética Médica da Prefeitura de Porto Alegre, Porto Alegre, Brazil</aff>
<aff id="I44"><label>44</label>
Department of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, The Netherlands</aff>
<aff id="I45"><label>45</label>
Human Development and Health, Faculty of Medicine, University of Southampton, Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK</aff>
<aff id="I46"><label>46</label>
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA</aff>
<aff id="I47"><label>47</label>
Department of Clinical Genetics, Level 2A, Laboratory Medicine Building, Southern General Hospital, 1345 Govan Rd, Glasgow, Scotland, G51 4TF, UK</aff>
<aff id="I48"><label>48</label>
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands</aff>
<aff id="I49"><label>49</label>
Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia</aff>
<aff id="I50"><label>50</label>
Division of Genetics, Boston Children’s Hospital, Boston, USA</aff>
<pub-date pub-type="collection"><year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>4</month>
<year>2013</year>
</pub-date>
<volume>8</volume>
<fpage>63</fpage>
<lpage>63</lpage>
<history><date date-type="received"><day>5</day>
<month>2</month>
<year>2013</year>
</date>
<date date-type="accepted"><day>16</day>
<month>4</month>
<year>2013</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2013 Nikkel et al.; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2013</copyright-year>
<copyright-holder>Nikkel et al.; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<self-uri xlink:href="http://www.ojrd.com/content/8/1/63"></self-uri>
<abstract><sec><title>Background</title>
<p>Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in <italic>SRCAP</italic>
were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome.</p>
</sec>
<sec><title>Methods and results</title>
<p>Clinical information on fifty-two individuals with <italic>SRCAP</italic>
mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations.</p>
</sec>
<sec><title>Conclusions</title>
<p>This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.</p>
</sec>
</abstract>
<kwd-group><kwd><italic>SRCAP</italic>
</kwd>
<kwd>Floating Harbor syndrome</kwd>
<kwd>Phenotype</kwd>
<kwd>Short stature</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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