Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α‐reductase 2 deficiency

Abstract excerpt

BACKGROUND AND OBJECTIVE: Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from complete female to nearly complete male. Here we performed genomic DNA analyses from individuals bearing the enzyme deficiency in order to detect the molecular abnormalities. PATIENTS: Four unrelated 46,XY patients of Mexican origin with...

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