… Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an
intragenic deletion of the CREBBP gene. Am J Med Genet A 2010; 152A (7) 1847-1848 …

The Rubinstein–Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with
typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused …

… Rubinstein–Taybi syndrome is characterised by mental retardation, growth retardation and
a particular dysmorphology. The syndrome is rare, with a frequency of approximately one …

… Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease,
with an estimated prevalence of one case per 125,000 live births. RSTS is characterized …

… Rubinstein-Taybi syndrome is a rare condition of unknown cause. No indication for
environmental causes was found, but they can never be excluded. Consistent chromosomal defects …

… Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder,
characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes…

… Floating-Harbor syndrome is caused by a pathogenic variant in SRCAP, which encodes
an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding …

… Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant
genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short …

… The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and …

… rare syndrome including unusual features found in two twin foetuses with compound
heterozygosity for two rare … This work provides an antenatal description of this rare syndrome and …