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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...

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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

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