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Article

Somatic Mosaicism Modulating Clinical Severity in COL2A1-Related Skeletal Dysplasia: A Case of Profound Skeletal Asymmetry.

Calcified tissue international - 18 Sept 2026

Yilmaz Rukiye Sena Turk, Cruz Lisa, Robinson Cemre, Bale Allen E, Carpenter Thomas O

Abstract excerpt

Type II collagenopathies represent a broad spectrum of skeletal dysplasias caused by pathogenic variants in the COL2A1 gene, ranging from perinatally lethal achondrogenesis type II to milder phenotypes such as spondyloepiphyseal dysplasia congenita and Stickler syndrome. Although specific mutations may suggest certain phenotypic trends, the genotype-phenotype relationship is not fully clarified. We describe a...

Read the complete abstract on PubMed

Topics

Female
Humans
Collagen Type II
Mosaicism
Mutation
Osteochondrodysplasias

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Child

Source

Identifiers

PMID: 42758201
DOI: 10.1007/s00223-026-01599-3

Genes

COL2A1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

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