Early diagnosis of 5alpha-reductase deficiency in newborns.

作者: S. Bertelloni , R.T. Scaramuzzo , D. Parrini , F. Baldinotti , S. Tumini

DOI: 10.1159/000102103

关键词:

摘要: 5α-reductase-2 deficiency is a rare autosomal recessive form of 46,XY disorders sex differentiation (DSD), caused by mutations in the steroid 5α-reductase type 2 gene (SRD5A2) , p

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