A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
- 1 January 1996
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 12 (1), 103-105
- https://doi.org/10.1038/ng0196-103
Abstract
No abstract availableThis publication has 15 references indexed in Scilit:
- Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneNature Genetics, 1995
- Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasiaNature Genetics, 1995
- Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease.Proceedings of the National Academy of Sciences of the United States of America, 1994
- A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrixHuman Genetics, 1994
- Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19Genomics, 1993
- Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.Proceedings of the National Academy of Sciences of the United States of America, 1993
- Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilageAmerican Journal of Medical Genetics, 1993
- Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the kneeSkeletal Radiology, 1988
- Multiple Epiphysial DysplasiaBMJ, 1958
- Dysplasia epiphysiais multiplex*British Journal of Surgery, 1947