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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| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2025-09-01
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| Series: | JCRPE |
| Subjects: | |
| 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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