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, Sue M. White, Dennis E. Bulman, Ernie Bongers, Han Brunner, Murray Feingold, Kym M. Boycott

Research output: Contribution to journal › Article › peer-review

71 Scopus citations

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Biochemistry, Genetics and Molecular Biology