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Article

[46,XY DSD induced by a novel mutation c.458T>C (p.Leu153Pro) of the LHCGR gene: A case report and review of the literature].

Zhonghua nan ke xue = National journal of andrology - 1 Dec 2020

Xu Zhi-Yong, Zhang Jia-Xun, Liu Yang, Geng Qian, Xie Jian-Sheng, Li Xiao-Jun

Abstract excerpt

OBJECTIVE: To investigate the clinical characteristics and pathogenic basis of a case of 46, XY disorders of sex development (DSD) and analyze the relationship of the missense mutation with the phenotype of the LHCGR gene. METHODS: We analyzed the causative gene mutation by next-generation high-throughput sequencing (HTS) and confirmed it by Sanger sequencing. We detected the effect of the mutation on the...

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PMID: 34898086

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