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The Phenotype of Floating-Harbor Syndrome: Clinical Characterization of 52 Individuals with Mutations in Exon 34 of SRCAP

Sarah M Nikkel,Andrew Dauber,Sonja de Munnik, Meghan Connolly,Rebecca L Hood,Oana Caluseriu,Jane Hurst,Usha Kini,Malgorzata J M Nowaczyk,Alexandra Afenjar,Beate Albrecht,Judith E Allanson,Paolo Balestri,Tawfeg Ben-Omran,Francesco Brancati,Isabel Cordeiro, Bruna Santos da Cunha,Louisa A Delaney,Anne Destrée,David Fitzpatrick,Francesca Forzano,Neeti Ghali,Greta Gillies, Katerina Harwood,Yvonne M C Hendriks,Delphine Héron,Alexander Hoischen,Engela Magdalena Honey,Lies H Hoefsloot,Jennifer Ibrahim, Claire M Jacob,Sarina G Kant,Chong Ae Kim,Edwin P Kirk,Nine V A M Knoers,Didier Lacombe,Chung Lee,Ivan F M Lo,Luiza S Lucas,Francesca Mari,Veronica Mericq,Jukka S Moilanen, Sanne Traasdahl Møller,Stephanie Moortgat,Daniela T Pilz,Kate Pope,Susan Price,Alessandra Renieri,Joaquim Sá,Jeroen Schoots,Elizabeth L Silveira,Marleen E H Simon,Anne Slavotinek,I Karen Temple,Ineke van der Burgt,Bert B A de Vries,James D Weisfeld-Adams,Margo L Whiteford, Dagmar Wierczorek,Jan M Wit, Connie Fung On Yee,Chandree L Beaulieu,FORGE Canada Consortium,Sue M White,Dennis E Bulman,Ernie Bongers,Han Brunner,Murray Feingold,Kym M Boycott

Orphanet Journal of Rare Diseases（2013）

引用 72|浏览47
关键词
SRCAP,Floating Harbor syndrome,Phenotype,Short stature
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