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Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene
17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearan...
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| Publicado no: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4677563/ https://ncbi.nlm.nih.gov/pubmed/26831562 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2069 |
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