Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient

Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient

Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal recessive disorder that results in decreased conversion of testosterone to dihydrotestosterone with various degree of incomplete virilization in affected 46, XY infants. No clear genotype-phenotype relationship ha...

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Bibliographic Details
Main Authors: Mesut Parlak, Erdem Durmaz, Semin Gursoy, Iffet Bircan, Sema Akcurin
Format: Article
Language:English
Published: King Faisal Specialist Hospital and Research Centre 2014-05-01
Series:Annals of Saudi Medicine
Online Access:https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2014.254

Internet

https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2014.254

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