doi:10.1086/429130572 Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease Jeroen H. Roelfsema,1 Stefan J. White,1
The behavioural and cognitive phenotype of Rubinstein-Taybi SyndromeRUBINSTEIN-TAYBI SYNDROME Jane Elizabeth Waite A thesis submitted to the University of Birmingham for
Multiple pilomatricomas in twins with Rubinstein-Taybi syndromeMultiple pilomatricomas in twins with Rubinstein-Taybi syndrome, Ana Laura Andrade Bueno a,b, Maria Emilia
Copyright, revised May 2018; New England Genetics Collaborative / Institute on Disability www.gemssforschools.org Rubinstein-Taybi Syndrome (RTS) For Healthcare Providers
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829Aampgt;T,
Síndrome de Rubinstein-Taybi asociado a anillo vascular completoSíndrome de Rubinstein-Taybi asociado mesocardio ll-Vl, pulsos normales. FISH positivo para
Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndromeAvailable online at www.sciencedirect.com Letter to the
Rubinstein-Taybi syndromeRubinstein-Taybi syndrome Rubinstein-Taybi syndrome is a caused by mutation in the CREBBP,EP300 genes or deletions occurring at short arm of chromosome