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Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.

Clinical endocrinology - 1 Nov 2018

Yu Bingqing, Liu Zhaoxiang, Gao Yinjie, Mao Jiangfeng, Wang Xi, Hao Ming, Ma Wanlu, Huang Qibin, Zhang Rui, Nie Min, Wu Xueyan

Abstract excerpt

OBJECTIVE: To analyze nuclear receptor subfamily 5 group A member 1 (NR5A1) gene mutations in a cohort of Chinese patients with 46, XY Disorders of Sex Development (DSD). METHODS: Sixty 46, XY DSD patients were recruited at Peking Union Medical College Hospital. Targeted next-generation and Sanger sequencing were performed to investigate pathogenic gene variants and validate NR5A1 gene variants, respectively. In...

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PMID: 30103258
DOI: 10.1111/cen.13831

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