Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Author(s):
Santen, G.W.E.; Aten, E.; Vulto-van Silfhout, A.T.; Pottinger, C.; Bon, B.W.M. van; Minderhout, I.J.H.M. van; Snowdowne, R.; Lans, C.A.C. van der; Boogaard, M.; Linssen, M.M.L.; Vijfhuizen, L.; Wielen, M.J.R. van der; Vollebregt, M.J.; Breuning, M.H. (0000-0002-8212-4319); Kriek, M.; Haeringen, A. van; Dunnen, J.T. den (0000-0002-6304-1710); Hoischen, A.; Clayton-Smith, J.; Vries, B.B.A. de; Hennekam, R.C.M.; Belzen, M.J. van; Coffin-Siris Consortium
Published
2013
Publication type
Article / Letter to editor
BAFSWISNFCoffin-SirisCSSNicolaides-BaraitserNBSgenotype-phenotypeARID1AARID1BSMARCB1SMARCA2SMARCA4SMARCE1mosaicism
Date issued
2013-11-30
Language
English
Is part of
Human Mutation (2013), Vol. 34, no. 11, p. 1519-1528
hdl
1887/100051
doi
10.1002/humu.22394