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Case of an unreported genetic variant of salt losing 3-β-hydroxysteroid dehydrogenase deficiency
Salt losing 3-β-hydroxysteroid dehydrogenase deficiency (HSD3B2) is a rare form of congenital adrenal hyperplasia, seen in <0.5% of cases. We present a 7-year-old male diagnosed with HSD3B2 deficiency, not identified by state newborn screen, due to a novel variant identified in the HSD3B2 gene (c...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8143666/ https://www.ncbi.nlm.nih.gov/pubmed/34055358 http://dx.doi.org/10.1093/omcr/omab021 |