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Two unrelated undervirilized 46,XY males with inherited NR5A1 variants identified by whole exome sequencing
BACKGROUND: Undervirilized 46,XY males with bifid scrotum often pose a diagnostic challenge, and the majority of cases typically do not receive a genetic diagnosis. NR5A1 mutations can be seen in 10–20% of cases and are a relatively common cause of undervirilization. METHODS: Whole-exome sequencing...
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| Publié dans: | Horm Res Paediatr |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5325809/ https://ncbi.nlm.nih.gov/pubmed/27553487 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000448754 |
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