11β-hydroxylase deficiency caused by a novel CYP11B1 variant: A case report
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroid biosynthesis. 11β-hydroxylase deficiency (11 β-OHD) - caused by a mutation in CYP11B1 - is responsible for 5%-8% of all CAH cases. In the classic form, genotypic female newborns exhibit ambiguous geni...
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| Main Authors: | , |
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2023-01-01T00:00:00Z.
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