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A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report
BACKGROUND: We report a novel mutation within the StAR gene, causing congenital adrenal hyperplasia, with the so far unreported association with heterochromia iridis. CASE PRESENTATION: In a now 15-year-old girl (born at 41 + 6 weeks of gestation) adrenal failure was diagnosed in the neonatal period...
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| Publicado no: | BMC Endocr Disord |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6821031/ https://ncbi.nlm.nih.gov/pubmed/31666050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-019-0448-2 |
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