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[Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Complete androgen insensitivity syndrome due to a novel variant of AR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2024

Meng Fanrong, Li Xiaozhou, Shi Yunfang, Ju Duan, Wang Xiuyan, Wang Chunying, Li Xuebing, Yu Wenjun, Wang Yingmei, Zhou Xuexia

Abstract excerpt

OBJETIVE: To explore the clinical and molecular basis for a Chinese pedigree affected with Complete androgen insensitivity syndrome (CAIS). METHODS: A CAIS pedigree presented at Tianjin Medical University General Hospital between 2019 and 2021 was selected as the study subject. Clinical data of the proband was collected, along with peripheral blood samples from the proband and her family members. Chromosomal...

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Identifiers

PMID: 39344615
DOI: 10.3760/cma.j.cn511374-20231014-00191

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