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Article

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

American journal of human genetics - 1 May 2005

Huang Ningwu, Pandey Amit V, Agrawal Vishal, Reardon William, Lapunzina Pablo D, Mowat David, Jabs Ethylin Wang, Van Vliet Guy, Sack Joseph, Flück Christa E, Miller Walter L

Abstract excerpt

P450 oxidoreductase (POR) is the obligatory flavoprotein intermediate that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate (NADPH) to all microsomal cytochrome P450 enzymes. Although mouse Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

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Identifiers

PMID: 15793702
DOI: 10.1086/429417
PMCID: PMC1199364

Genes

POR
FGFR2
FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.PMID 15793702Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.Semantic proximity Read ↗

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Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.Semantic proximity Read ↗

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.Semantic proximity Read ↗

Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.Semantic proximity Read ↗

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A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.Semantic proximity Read ↗

Consequences of POR mutations and polymorphisms.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.Semantic proximity Read ↗

[Antley-Bixler syndrome or POR deficiency?].Semantic proximity Read ↗

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