Article

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations

2021-12-09

Abstract excerpt

Deficiency of Cytochrome P450 Steroid 21-hydroxylase (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction along with functional studies are often the only way to classify variants to understand the links to disease-causing effects. Here we investigated the pathogenicity of uncharacterized varia...

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Literature Corpus work: 3a139442-0311-584d-a876-e11223f807a6
DOI: 10.20944/preprints202112.0144.v1

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