CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype

Author(s):
Menke, L.A.; Belzen, M.J. van; Alders, M.; Cristofoli, F.; Ehmke, N.; Fergelot, P.; Foster, A.; Gerkes, E.H.; Hoffer, M.J.V. (0000-0002-1812-7670); 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. (0000-0001-6974-7143); Pfundt, R.; Ravenswaaij-Arts, C.M.A. van; Tartaglia, M.; Hennekam, R.C.M.; DDD Study
Published
2016
Publication type
Article / Letter to editor
CREBBPexon 30exon 31whole exome sequencingintellectual disabilityRubinstein-Taybi syndromeRSTSsyndromemutationclinical featurescase seriesgenotype-phenotype correlation
Date issued
2016-10-31
Language
English
Is part of
American Journal of Medical Genetics Part A (2016), Vol. 170, no. 10, p. 2681-2693
hdl
1887/112960
doi
10.1002/ajmg.a.37800