Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contributionDecreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation.Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutationsFunctional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritisComparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.Emerging genetic basis of osteochondritis dissecans.Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.Association of matrilin-3 polymorphisms with spinal disc degeneration and osteoarthritis of the first carpometacarpal joint of the hand.Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutationMatrilin-2 is a widely distributed extracellular matrix protein and a potential biomarker in the early stage of osteoarthritis in articular cartilage.Matrilin-3 chondrodysplasia mutations cause attenuated chondrogenesis, premature hypertrophy and aberrant response to TGF-β in chondroprogenitor cellsRevisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal DysplasiaMATN3 gene polymorphism is associated with osteoarthritis in Chinese Han population: a community-based case-control study
P2860
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P2860
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.
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2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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name
Clinical and radiographic find ...... s: description of 12 patients.
@en
Clinical and radiographic find ...... s: description of 12 patients.
@nl
type
label
Clinical and radiographic find ...... s: description of 12 patients.
@en
Clinical and radiographic find ...... s: description of 12 patients.
@nl
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Clinical and radiographic find ...... s: description of 12 patients.
@en
Clinical and radiographic find ...... s: description of 12 patients.
@nl
P2093
P2860
P50
P356
P1476
Clinical and radiographic find ...... s: description of 12 patients.
@en
P2093
Eveliina Jakkula
Gail C Jackson
Leena Ala-Kokko
Malwina Czarny-Ratajczak
Margarida Freund
Michael D Briggs
Michael J Wright
Mohnish Suri
William G Cole
P2860
P304
P356
10.1002/AJMG.A.20486
P407
P577
2004-03-01T00:00:00Z