Article
Familial cases and male cases with MECP2 mutations.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Jun 2017
Zhang Qingping, Zhao Ying, Bao Xinhua, Luo Jinjun, Zhang Xiaoying, Li Jiarui, Wei Liping, Wu Xiru
Abstract excerpt
This is the first report of Chinese familial cases with Rett syndrome (RTT) or X-linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, including three females and five males with RTT or XLMR. All shared identical MECP2 mutations with their mothers. The...
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