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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Detalles Bibliográficos
Autores principales: Xu, Chao, Jia, Wenyu, Cheng, Xiangdeng, Ying, Hui, Chen, Jing, Xu, Jin, Guan, Qingbo, Zhou, Xinli, Zheng, Dongmei, Li, Guimei, Zhao, Jiajun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565591/
https://www.ncbi.nlm.nih.gov/pubmed/30968594
http://dx.doi.org/10.1002/mgg3.671

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