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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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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 |