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Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review

BACKGROUND: Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease exhibiting a variety of clinical manifestations. It can be difficult to differentiate with other diseases such as 21-hydroxylase deficiency (21-OHD), polycystic ovary syndrome (PCOS) and Antley–Bixler syndrome (ABS). Near...

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Detalles Bibliográficos
Autores principales:	Bai, Yang, Li, Jinhui, Wang, Xiaoli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5348910/ https://www.ncbi.nlm.nih.gov/pubmed/28288674 http://dx.doi.org/10.1186/s13048-017-0312-9

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