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[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2020

Liu Ailing, Zhang Lanxue, Xu Hongyan, Chong Baoqiang, Liu Xiaxia, Li Lin

Abstract excerpt

OBJECTIVE: To explore the pathogenesis for a SRY-negative male with 46,XX disorder of sex development (DSD). METHODS: Peripheral blood samples of the patient and his family members were subjected to chromosomal karyotyping, routine PCR, real-time fluorescence quantitative PCR, whole exome sequencing and whole genome sequencing. The data was analyzed with NextGENe software. RESULTS: Both the proband and his...

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Identifiers

PMID: 33306833
DOI: 10.3760/cma.j.cn511374-20191029-00548

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