[Genetic analysis of a pregnant woman with moderate intellectual disability due to variant of DLG4 gene].

Panla Shi,Xuechao Zhao,Li'na Liu,Yanjie Xia, Conghui Wang,Duo Chen,Yaqin Hou,Zhouxian Bai,Xiangdong Kong

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 heterozygous c.1675C>T variant of the DLG4 gene probably underlay the mental retardation in this woman, and her fetus was found to harbor the same variant in addition with deletion of the DMD gene, which may predispose to ID type 62.

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关键词

dlg4 genetic,moderate intellectual disability,genetic analysis,pregnant woman

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