Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
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DOI: 10.1515/jpem-2020-0058
Abstract: Abstract Objectives Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis.11β-hydroxylase deficiency and 17α-hydroxylase deficiency are two forms of CAH caused by defects of CYP11B1 and CYP17A1 respectively. Case presentation Two rare… read more here.
Keywords: adrenal hyperplasia; cah; intronic variants; hyperplasia cah ... See more keywords