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Molecular Characterization of 6 Unrelated Italian Patients With 5α‐Reductase Type 2 Deficiency

21 Dec 2007

Abstract excerpt

Steroid 5alpha-reductase (5alphaR) deficiency (OMIM number #264600) is a rare 46,XY disorder of sex differentiation caused by mutations in the 5alphaR type 2 gene (SRD5A2) resulting in dihydrotestosterone deficiency during fetal development. We report on the analysis of the SRD5A2 gene in 6 unrelated 46,XY Italian patients with external genitalia morphology ranging from predominantly female to nearly completely...

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PMID: 17609295
DOI: 10.2164/jandrol.107.002592

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