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Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report

BACKGROUND: 17α-Hydroxylase deficiency (17-OHD) is a rare form of congenital adrenal hyperplasia, characterized by hypertension, hypokalemia, and gonadal dysplasia. However, due to the lack of a comprehensive understanding of this disease, it is prone to misdiagnosis and missed diagnosis, and there...

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Detalles Bibliográficos
Autores principales: Gong, Yu, Qin, Fang, Li, Wen-Jia, Li, Le-Yu, He, Ping, Zhou, Xing-Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9048556/
https://www.ncbi.nlm.nih.gov/pubmed/35611191
http://dx.doi.org/10.12998/wjcc.v10.i11.3553