Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
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DOI: 10.1002/mgg3.2195
Abstract: BACKGROUND Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency is an autosomal recessive inborn error of cortisol biosynthesis, with varying degrees of aldosterone production. There is a continuum of phenotypes which generally correlate with… read more here.
Keywords: chimera; cyp21a2; cyp21a1p cyp21a2; cah ... See more keywords