Article
Epigenetic mechanisms of Rubinstein-Taybi syndrome.
Neuromolecular medicine - 1 Mar 2014
Park Elizabeth, Kim Yunha, Ryu Hyun, Kowall Neil W, Lee Junghee, Ryu Hoon
Abstract excerpt
Rubinstein-Taybi syndrome (RTS) is an incurable genetic disorder with combination of mental retardation and physical features including broad thumbs and toes, craniofacial abnormalities, and growth deficiency. While the autosomal dominant mode of transmission is limitedly known, the majority of cases are attributable to de novo mutations in RTS. The first identified gene associated with RTS is CREB-binding...
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