Genotype–phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21‐hydroxylase deficiency

BACKGROUND: Steroid 21‐hydroxylase deficiency (21OHD) is the most common enzymatic defect, but the genotype–phenotype associations have not been well established in Chinese patients. Here, a Chinese 21OHD cohort was enrolled to investigate the clinical, biochemical, and genetic characteristics of th...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Xu, Chao, Jia, Wenyu, Cheng, Xiangdeng, Ying, Hui, Chen, Jing, Xu, Jin, Guan, Qingbo, Zhou, Xinli, Zheng, Dongmei, Li, Guimei, Zhao, Jiajun
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565591/
https://ncbi.nlm.nih.gov/pubmed/30968594
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.671
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