Article
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
BMC medical genetics - 29 Aug 2017
Zhang Qingping, Wang Jiaping, Li Jiarui, Bao Xinhua, Zhao Ying, Zhang Xiaoying, Wei Liping, Wu Xiru
Abstract excerpt
BACKGROUND: We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR). METHODS: Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. RESULTS: Four FOXG1 mutations were detected in...
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