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Article

Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Wang Ruifang, Dong Zhiya, Wang Wei, Xiao Yuan, Ni Jihong, Wang Defen

Abstract excerpt

OBJECTIVES: To investigate the prevalence of genetic mutations in steroid 5α-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children with hypospadias, and to also explore the possible underlying molecular mechanisms of this disease. METHODS: A total of 52 boys with hypospadias were enrolled. Mutational analyses of the SRD5A2, AR and SF-1 genes were performed by direct...

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PMID: 23729601
DOI: 10.1515/jpem-2012-0316

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