Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Orphanet journal of rare diseases - 27 Apr 2013
Nikkel Sarah M, Dauber Andrew, de Munnik Sonja, Connolly Meghan, Hood Rebecca L, Caluseriu Oana, Hurst Jane, Kini Usha, Nowaczyk Malgorzata J M, Afenjar Alexandra, Albrecht Beate, Allanson Judith E, Balestri Paolo, Ben-Omran Tawfeg, Brancati Francesco, Cordeiro Isabel, da Cunha Bruna Santos, Delaney Louisa A, Destrée Anne, Fitzpatrick David, Forzano Francesca, Ghali Neeti, Gillies Greta, Harwood Katerina, Hendriks Yvonne M C, Héron Delphine, Hoischen Alexander, Honey Engela Magdalena, Hoefsloot Lies H, Ibrahim Jennifer, Jacob Claire M, Kant Sarina G, Kim Chong Ae, Kirk Edwin P, Knoers Nine V A M, Lacombe Didier, Lee Chung, Lo Ivan F M, Lucas Luiza S, Mari Francesca, Mericq Veronica, Moilanen Jukka S, Møller Sanne Traasdahl, Moortgat Stephanie, Pilz Daniela T, Pope Kate, Price Susan, Renieri Alessandra, Sá Joaquim, Schoots Jeroen, Silveira Elizabeth L, Simon Marleen E H, Slavotinek Anne, Temple I Karen, van der Burgt Ineke, de Vries Bert B A, Weisfeld-Adams James D, Whiteford Margo L, Wierczorek Dagmar, Wit Jan M, Yee Connie Fung On, Beaulieu Chandree L, White Sue M, Bulman Dennis E, Bongers Ernie, Brunner Han, Feingold Murray, Boycott Kym M
Abstract excerpt
BACKGROUND: 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 SRCAP 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. METHODS AND RESULTS: Clinical information...
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