Article
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
American journal of medical genetics. Part A - 1 Jun 2016
Yang Pu, Tan Hu, Xia Yan, Yu Qian, Wei Xianda, Guo Ruolan, Peng Ying, Chen Chen, Li Haoxian, Mei Libin, Huang Yanru, Liang Desheng, Wu Lingqian
Abstract excerpt
Kabuki syndrome (KS) is a rare condition with multiple congenital anomalies and mental retardation. Exonic deletions, disrupting the lysine (K)-specific demethylase 6A (KDM6A) gene have been demonstrated as rare cause of KS. Here, we report a de novo 227-kb deletion in chromosome Xp11.3 of a 7-year-old Chinese girl with KS. Besides the symptoms of KS, the patient also presented with skin allergic manifestations,...
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