Cytochrome P450 oxidoreductase deficiency caused by a novel mutation in the POR gene in two siblings: case report and literature review.
Unal E, Demiral M, Yıldırım R, Taş FF, Ceylaner S, Özbek MN.
Hormones (Athens). 2021 Jun;20(2):293-298. doi: 10.1007/s42000-020-00249-z. Epub 2020 Oct 29.
Cytochrome P450 Oxidoreductase Deficiency.
Idkowiak J, Cragun D, Hopkin RJ, Arlt W.
2005 Sep 8 [updated 2017 Aug 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.
Bai Y, Li J, Wang X.
J Ovarian Res. 2017 Mar 14;10(1):16. doi: 10.1186/s13048-017-0312-9.
P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.
Burkhard FZ, Parween S, Udhane SS, Flück CE, Pandey AV.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):38-50. doi: 10.1016/j.jsbmb.2016.04.003. Epub 2016 Apr 8.
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL.
Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318.
P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.
Flück CE, Pandey AV, Huang N, Agrawal V, Miller WL.
Endocr Dev. 2008;13:67-81. doi: 10.1159/000134826.
Pharmacogenomics of human P450 oxidoreductase.
Pandey AV, Sproll P.
Front Pharmacol. 2014 May 9;5:103. doi: 10.3389/fphar.2014.00103. eCollection 2014.
Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.
Wang C, Tian Q.
Front Endocrinol (Lausanne). 2023 Aug 11;14:1226387. doi: 10.3389/fendo.2023.1226387. eCollection 2023.
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.
Flück CE, Miller WL.
Curr Opin Pediatr. 2006 Aug;18(4):435-41. doi: 10.1097/01.mop.0000236395.71956.5c.
P450 oxidoreductase deficiency and Antley-Bixler syndrome.
Arlt W.
Rev Endocr Metab Disord. 2007 Dec;8(4):301-7. doi: 10.1007/s11154-007-9056-y.
