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Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients

INTRODUCTION: Complete 17α-hydroxylase deficiency (17OHD) is relatively common, with typical juvenile female genitalia, severe hypertension, hypokalemia, and the absence of sexual development, but partial (or non-classical) 17OHD (p17OHD) is extremely rare. The p17OHD patients can present with a bro...

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Detalles Bibliográficos
Autores principales:	Zhang, Duoduo, Yao, Fengxia, Luo, Min, Wang, Yanfang, Tian, Tiffany, Deng, Shan, Tian, Qinjie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9797673/ https://www.ncbi.nlm.nih.gov/pubmed/36589849 http://dx.doi.org/10.3389/fendo.2022.978026

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