CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

Menke, L.A.; Belzen, M.J. van; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; ... ; DDD Study (2016)

Article / Letter to editor

• CREBBP
• exon 30
• exon 31
• whole exome sequencing
• intellectual disability
• Rubinstein-Taybi syndrome
• RSTS
• syndrome
• mutation
• clinical features
• case series
• genotype-phenotype correlation

• All authors: Menke, L.A.; Belzen, M.J. van; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; Foster, A.; Gerkes, E.H.; Hoffer, M.J.V.; Horn, D.; Kant, S.G.; Lacombe, D.; Leon, E.; Maas, S.M.; Melis, D.; Muto, V.; Park, S.M.; Peeters, H.; Peters, D.J.M.; Pfundt, R.; Ravenswaaij-Arts, C.M.A. van; Tartaglia, M.; Hennekam, R.C.M.; DDD Study
• Date: 2016-10-31
• Journal: American Journal of Medical Genetics Part A
• Volume: 170
• Issue: 10
• Pages: 2681 - 2693
• DOI: doi:10.1002/ajmg.a.37800