Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and...

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Bibliographic Details
Main Authors: Burcu Yeter, Yasemin Kendir Demirkol, Metin Eser, Ahmet Hamdi Akgülle, Betül Sözeri, Heves Kırmızıbekmez
Format: Article
Language:English
Published: Galenos Yayincilik 2025-09-01
Series:JCRPE
Subjects:
col2a1 gene
col2a1-related disorders
short-trunk dwarfism
type 2 collagenopathies
whole exome sequencing
Online Access:https://www.jcrpe.org/articles/diagnostic-challenge-of-phenotypic-variability-in-lessemgreatercol2a1lessemgreater-related-disorders-four-novel-variants-that-expand-the-clinical-spectrum/doi/jcrpe.galenos.2025.2024-9-7
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https://www.jcrpe.org/articles/diagnostic-challenge-of-phenotypic-variability-in-lessemgreatercol2a1lessemgreater-related-disorders-four-novel-variants-that-expand-the-clinical-spectrum/doi/jcrpe.galenos.2025.2024-9-7

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