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Article

Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Jun 2007

Scott Rachel R, Gomes Larissa G, Huang Ningwu, Van Vliet Guy, Miller Walter L

Abstract excerpt

CONTEXT: P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis affecting the microsomal P450 enzymes that use POR as an electron donor. The clinical presentation is variable; patients can be asymptomatic or can present with genital anomalies and the Antley-Bixler syndrome, characterized by craniosynostosis and other bony anomalies. Obligately heterozygous parents are normal. Combined POR and...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NADPH-Ferrihemoprotein Reductase

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Source

Identifiers

PMID: 17389698
DOI: 10.1210/jc.2006-2345

Genes

POR

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.

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