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Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
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Abstract
Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11β-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH.