Article

The spectrum of CYP21A2 gene mutations in patients with 2l-hydroxylase deficiency -induced congenital adrenal hyperplasia in a Chinese cohort

2020-03-30

Abstract excerpt

<h4>Background: </h4> 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations is the most popular form of congenital adrenal hyperplasia. It is an autosomal recessive disorder results in the defective synthesis of cortisol and aldosterone. The incidences of various CYP21A2 gene mutations and the genotype-phenotype correlations vary among different populations. Therefore, the aim of current study wa...

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Literature Corpus work: 97ce642d-c64b-5063-b854-302d6d70c2e1
DOI: 10.21203/rs.3.rs-19624/v1

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