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[Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017

Yuan Shimin, Zhong Changgao, Li Xiurong, Du Juan, Li Wen, Lu Guangxiu, Tan Yueqiu

Abstract excerpt

OBJECTIVE: To analyze the karyotypes and SRD5A2 gene mutations in 25 patients with sporadic or familial hypospadias. METHODS: The patients included 10 adults and 15 children, whose chromosomes were analyzed by G-banded karyotyping, and the SRD5A2 genes were sequenced. RESULTS: Two patients were found to have an abnormal karyotype, while eight have carried compound heterozygous mutations of the SRD5A2 gene, which...

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Identifiers

PMID: 28397209
DOI: 10.3760/cma.j.issn.1003-9406.2017.02.001

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