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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Bibliografiske detaljer
Udgivet i:Ann Pediatr Endocrinol Metab
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Korean Society of Pediatric Endocrinology 2020
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Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336261/
https://ncbi.nlm.nih.gov/pubmed/32615689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.1938152.076
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