[Analysis of ARX gene variant in a child with X-linked lissencephaly with abnormal genitalia].

Jiajia Guo, Yuan Tian,Huijuan Wang, Jinguang Wang, Xufang Fan,Falin Xu, Lihong Shang,Xiaoli Zhang

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2023）

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摘要

The hemizygous c.945_948del variant of the ARX gene probably underlay the XLAG in this patient. Above finding has provided a basis for the diagnosis and genetic counseling for this family.

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关键词

arx gene variant,lissencephaly,abnormal genitalia,x-linked

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