Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2) (Q28294048)

5

object named as

Shiro Ikegawa

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author name string

Mitsuhiko Takahashi

1

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Yoshito Matsui

2

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Tomohiro Goto

3

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Hirofumi Ohashi

6

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Natsuo Yasui

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

7

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language of work or name

English

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publication date

July 2006

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published in

Clinical Rheumatology

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volume

25

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issue

4

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page(s)

591-5

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cites work

1 reference

12 December 2020

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

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Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia

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Double-layered patella in multiple epiphyseal dysplasia is not exclusive to DTDST mutation

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Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia

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The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix

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A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity

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Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia

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12 December 2020

COL9A3: A third locus for multiple epiphyseal dysplasia

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Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia

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Local factors in osteoarthritis

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Covalent Cross-linking of the NC1 Domain of Collagen Type IX to Collagen Type II in Cartilage

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Identification of a novel common genetic risk factor for lumbar disk disease

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Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion

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Three Modes of Ossification During Distraction Osteogenesis in the Rat

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12 December 2020

Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

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12 December 2020

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy

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12 December 2020

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1 reference

12 December 2020

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

1 reference

12 December 2020