The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
- Author(s):
- Nikkel, S.M.; Dauber, A.; Munnik, S. de; Connolly, M.; Hood, R.L.; Caluseriu, O.; Hurst, J.; Kini, U.; Nowaczyk, M.J.M.; Afenjar, A.; Albrecht, B.; Allanson, J.E.; Balestri, P.; Ben-Omran, T.; Brancati, F.; Cordeiro, I.; Cunha, B.S. da; Delaney, L.A.; Destree, A.; Fitzpatrick, D.; Forzano, F.; Ghali, N.; Gillies, G.; Harwood, K.; Hendriks, Y.M.C.; Heron, D.; Hoischen, A.; Honey, E.M.; Hoefsloot, L.H.; Ibrahim, J.; Jacob, C.M.; Kant, S.G.; Kim, C.A.; Kirk, E.P.; Knoers, N.V.A.M.; Lacombe, D.; Lee, C.; ; Lucas, L.S.; Mari, F.; Mericq, V.; Moilanen, J.S.; Moller, S.T.; Moortgat, S.; Pilz, D.T.; Pope, K.; Price, S.; Renieri, A.; Sa, J.; Schoots, J.; Silveira, E.L.; Simon, M.E.H.; Slavotinek, A.; Temple, I.K.; Burgt, I. van der; Vries, B.B.A. de; Weisfeld-Adams, J.D.; Whiteford, M.L.; Wierczorek, D.; Wit, J.M.; Yee, C.F.O.; Beaulieu, C.L.; White, S.M.; Bulman, D.E.; Bongers, E.; Brunner, H.; Feingold, M.; Boycott, K.M.; FORGE Canada Consortium
- Published
- 2013
- Publication type
- Article / Letter to editor
SRCAPFloating Harbor syndromePhenotypeShort stature
- Date issued
- 2013-04-27
- Language
- English
- Is part of
- Orphanet Journal of Rare Diseases
- hdl
- 1887/100954
- doi
- 10.1186/1750-1172-8-63