Article

A Novel G88S Mutation in POR Leads to Severe PORD

2025-10-07

Abstract excerpt

Context: P450 oxidoreductase (POR) deficiency is a rare congenital adrenal hyperplasia with variable severity. The mechanisms of severe mutations and their full metabolic consequences, including drug metabolism, are not fully characterized. <h4>Objective:</h4> To define the clinical, biochemical, and molecular consequences of a novel homozygous POR missense mutation, p.Gly88Ser (G88S), identified in four unrelated...

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Literature Corpus work: 2c35b8d7-fa86-5ba2-a61b-15deacd2e053
DOI: 10.20944/preprints202510.0422.v1

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