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

Santen, G.W.E.; Aten, E.; Vulto-van Silfhout, A.T.; Pottinger, C.; Bon, B.W.M. van; Minderhout, I.J.H.M. van; ... ; Coffin-Siris Consortium (2013)

Article / Letter to editor

• BAF
• SWI
• SNF
• Coffin-Siris
• CSS
• Nicolaides-Baraitser
• NBS
• genotype-phenotype
• ARID1A
• ARID1B
• SMARCB1
• SMARCA2
• SMARCA4
• SMARCE1
• mosaicism

• All authors: 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.; Kriek, M.; Haeringen, A. van; Dunnen, J.T. den; Hoischen, A.; Clayton-Smith, J.; Vries, B.B.A. de; Hennekam, R.C.M.; Belzen, M.J. van; Coffin-Siris Consortium
• Date: 2013-11-30
• Journal: Human Mutation
• Volume: 34
• Issue: 11
• Pages: 1519 - 1528
• DOI: doi:10.1002/humu.22394