[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].

Jiandong Shen,Yan Gao,Wei Wu,Jinyong Liu,Xueping Sun,Yawen Peng,Jiazi Xie, Daowu Wang,Yugui Cui,Jiayin Liu,Feiyang Diao

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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摘要

Variants of the NLRP7 gene probably underlay autosomal recessive RHM in the three pedigrees, and definitive molecular diagnosis is beneficial for accurate genetic counseling. Above finding has also enriched the spectrum of the NLRP7 variants underlying RHM.

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