17 alpha‐hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation

We report a young adult woman with 17 alpha‐hydroxylase deficiency (17α‐OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985–987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia...

Descripción completa

Detalles Bibliográficos
Autores principales: Han, Li Hui, Wang, Liang, Wu, Xiu Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309746/
https://www.ncbi.nlm.nih.gov/pubmed/35898732
http://dx.doi.org/10.1002/ccr3.6109

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9309746/
https://www.ncbi.nlm.nih.gov/pubmed/35898732
http://dx.doi.org/10.1002/ccr3.6109

Ejemplares similares