A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

BACKGROUND: Congenital adrenal hyperplasia (CAH) resulting from steroid 11β-hydroxylase deficiency (11β-OHD) is caused by mutations in the CYP11B1 gene. It is the second major form of CAH associated with hypertension and hypopotassemia. The aim of this study was to provide a genetic analysis of 11β-...

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Detalhes bibliográficos
Publicado no:BMC Endocr Disord
Main Authors: Yuan, Xianxian, Lu, Lin, Chen, Shi, Jiang, Jun, Wang, Xiangqing, Liu, Zhihui, Zhu, Huijuan, Pan, Hui, Lu, Zhaolin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6151069/
https://ncbi.nlm.nih.gov/pubmed/30241518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-018-0295-6
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