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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Pediatr Endocrinol Metab
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Korean Society of Pediatric Endocrinology 2020
Aiheet:
Original Article
Linkit: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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