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Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency
OBJECTIVE: Deficiency of steroid 5-alpha reductase type 2 (5αRD2) 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 testosterone into dihydrotestosterone, leads to disorders of sex development. This st...
Gardado en:
| Publicado en: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Galenos Publishing
2016
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5096479/ https://ncbi.nlm.nih.gov/pubmed/26761946 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2495 |
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