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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...
Shranjeno v:
| izdano v: | Ann Saudi Med |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
King Faisal Specialist Hospital and Research Centre
2014
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| Teme: | |
| Online dostop: | 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 |
| Oznake: |
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