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Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
BACKGROUND: Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account for most cases of CAH. The c.145l-1452delGGins...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900299/ https://www.ncbi.nlm.nih.gov/pubmed/35255871 http://dx.doi.org/10.1186/s12902-022-00969-w |