Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency

PURPOSE: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, a...

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Detalles Bibliográficos
Autores principales: Lee, Yena, Choi, Jin-Ho, Oh, Arum, Kim, Gu-Hwan, Park, Sook-Hyun, Moon, Jung Eun, Ko, Cheol Woo, Cheon, Chong-Kun, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336261/
https://www.ncbi.nlm.nih.gov/pubmed/32615689
http://dx.doi.org/10.6065/apem.1938152.076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336261/
https://www.ncbi.nlm.nih.gov/pubmed/32615689
http://dx.doi.org/10.6065/apem.1938152.076

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