Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that leads to impaired cortisol biosynthesis. 21-hydroxylase deficiency (21-OHD) is the most common type of CAH. Severe cases of 21-OHD...

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主要な著者:	Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang
フォーマット:	Artigo
言語:	Inglês
出版事項:	Frontiers Media S.A. 2021-01-01
シリーズ:	Frontiers in Genetics
主題:	congenital adrenal hyperplasia 21-hydroxylase deficiency neonatal screening genotype-phenotype CYP21A2
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fgene.2020.623125/full
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