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Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia
BACKGROUND/OBJECTIVE: Nonclassic congenital adrenal hyperplasia (NCCAH) may be overlooked or mistaken for polycystic ovarian syndrome. Unlike congenital adrenal hyperplasia (CAH), the enzymatic activities of 21-hydroxylase or 11β-hydroxylase in NCCAH are not completely lost. In this case, NCCAH pres...
Autores principales: | Frontera, Eric D., Brown, Joshua J., Ghareebian, Hagop, Mariash, Cary |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Association of Clinical Endocrinology
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701904/ https://www.ncbi.nlm.nih.gov/pubmed/36447832 http://dx.doi.org/10.1016/j.aace.2022.10.003 |
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