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
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
Sabir AH et al.
Bmc Medical Genomics, 2021
Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy.
Tian X et al.
Pathology Oncology Research : Por, 2021
34512202 (PubMed )
Supplement: Table1.XLSX › SNV_prediction
A novel p.A191D matrilin-3 variant in a Vietnamese family with multiple epiphyseal dysplasia: a case report.
Ho TT et al.
Bmc Musculoskeletal Disorders, 2020
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis.
Zhang Y et al.
Journal of Orthopaedic Surgery and Research, 2008
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.
Mabuchi A et al.
Human Mutation, 2004
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
Mäkitie O et al.
American Journal of Medical Genetics. Part A, 2004
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
Jackson GC et al.
Journal of Medical Genetics, 2004
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