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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Dettagli Bibliografici
Pubblicato in:Ann Pediatr Endocrinol Metab
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Korean Society of Pediatric Endocrinology 2020
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Original Article
Accesso online: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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