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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Vydáno v:Ann Saudi Med
Hlavní autoři: Parlak, Mesut, Durmaz, Erdem, Gursoy, Semin, Bircan, Iffet, Akcurin, Sema
Médium: Artigo
Jazyk:Inglês
Vydáno: King Faisal Specialist Hospital and Research Centre 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6074591/
https://ncbi.nlm.nih.gov/pubmed/25266188
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5144/0256-4947.2014.254
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