https://www.selleckchem.com/pr....oducts/gmx1778-chs82
Steroid 11β-hydroxylase deficiency (11β-OHD), which is caused by mutations of the CYP11B1 gene, is the second leading cause of congenital adrenal hyperplasia (CAH), an autosomal recessive inherited disorder. Here, we report a case of classic 11β-OHD in a Chinese boy characterized by hypertension, penile enlargement, skin pigmentation, and acne. Molecular analysis of CYP11B1 revealed that the patient was compound heterozygous for a c.217C T (p.Q73X) mutation in exon 1 and a c.421C T (p.R141X) mutation in exon 3. His pare
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