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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Bibliografske podrobnosti
izdano v:Front Genet
Main Authors: Wang, Xin, Wang, Yanyun, Ma, Dingyuan, Zhang, Zhilei, Li, Yahong, Yang, Peiying, Sun, Yun, Jiang, Tao
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2021
Teme:
Genetics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7862715/
https://ncbi.nlm.nih.gov/pubmed/33552137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.623125
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