Browsing Tıp Fakültesi by Subject "46,XY Disorders of Sex Development"
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Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
(Galenos Yayincilik, 2016)Objective: Deficiency of steroid 5-alpha reductase type 2 (5 alpha RD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of ...