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Article

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.

The Journal of clinical endocrinology and metabolism - 1 Mar 2020

Dean Benjamin, Chrisp Georgina L, Quartararo Maria, Maguire Ann M, Hameed Shihab, King Bruce R, Munns Craig F, Torpy David J, Falhammar Henrik, Rushworth R Louise

Abstract excerpt

CONTEXT: P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases. OBJECTIVE: To determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD)....

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PMID: 31825489
DOI: 10.1210/clinem/dgz255

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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