Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
نویسندگان
چکیده
منابع مشابه
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.
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 inves...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2007
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201847