Associated Papers
From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.
Dennis EP et al.
International Journal of Molecular Sciences, 2025
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A et al.
Orphanet Journal of Rare Diseases, 2022
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
Nash BM et al.
European Journal of Human Genetics : Ejhg, 2021
Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.
Dennis EP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.
Jeong C et al.
Bmc Musculoskeletal Disorders, 2014
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