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Article

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.

Frontiers in endocrinology - 1 Jan 2026

Ni Xiaolin, Wei Liya, Xia Weibo, Wu Di

Abstract excerpt

Background: Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia-1 (EDM1) are two rare skeletal diseases that represent distinct endpoints of a continuous phenotypic spectrum with substantial clinical overlap, caused by variants in the gene coding cartilage oligomeric matrix protein (COMP). Objectives: To summarize the clinical characteristics of PSACH/EDM1 and variants of COMP gene, as well as to...

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Source

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Identifiers

PMID: 41798190
DOI: 10.3389/fendo.2026.1740770
PMCID: PMC12960193

Genes

COMP

Variants

Provenance

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Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.PMID 41798190Read ↗

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