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Article

The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant.

Frontiers in endocrinology - 1 Jan 2022

Zhao Zhiyuan, Gao Yinjie, Lu Lin, Tong Anli, Chen Shi, Zhang Wei, Zhang Xiaoxia, Sun Bang, Wu Xueyan, Mao Jiangfeng, Wang Xi, Nie Min

Abstract excerpt

Objective: To analyze the relationship between genotype and phenotype in 21-Hydroxylase deficiency patients harboring P31L variant and the underlying mechanism. Methods: A total of 29 Chinese patients with 21-OHD harboring P31L variant were recruited, and the detailed clinical features of the patients were extracted and analyzed retrospectively. The TA clone combined with sequencing of the region containing the...

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Identifiers

PMID: 36866166
DOI: 10.3389/fendo.2022.1015773
PMCID: PMC9972294

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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