Ontology highlight
ABSTRACT:
SUBMITTER: Wincent J
PROVIDER: S-EPMC4707034 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Wincent Josephine J Luthman Aron A van Belzen Martine M van der Lans Christian C Albert Johanna J Nordgren Ann A Anderlid Britt-Marie BM
Molecular genetics & genomic medicine 20150922 1
Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant congenital disorder characterized by distinctive facial features, broad thumbs and halluces, growth retardation, and a variable degree of cognitive impairment. CREBBP is the major causative gene and mutations in EP300 are the cause of RTS in a minority of patients. In this study, 17 patients with a clinical diagnosis of RTS were investigated with direct sequencing, MLPA, and array-CGH in search for mutations in these two genes. Eleven ...[more]