Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

Michael D. Briggs, Susan M.G. Hoffman, Lily King et al. · Nature Genetics · 1995 · 519 citations

Medicine, Genetics, Molecular Genetics +13

Mutations in Cartilage Oligomeric Matrix Protein Causing Pseudoachondroplasia and Multiple Epiphyseal Dysplasia Affect Binding of Calcium and Collagen I, II, and IX

Jochen Thur, Krisztina Rosenberg, D. Patric Nitsche et al. · Journal of Biological Chemistry · 2001 · 234 citations · Full text

Life Sciences, Biology, Molecular Biology +15

Cartilage Oligomeric Matrix Protein Interacts with Type IX Collagen, and Disruptions to These Interactions Identify a Pathogenetic Mechanism in a Bone Dysplasia Family

Paul Holden, Roger S. Meadows, Kathryn Chapman et al. · Journal of Biological Chemistry · 2001 · 222 citations · Full text

Medicine, Genetics, Molecular Biology +16

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

Yasuteru Muragaki, Edwin C.M. Mariman, Sylvia E. C. van Beersum et al. · Nature Genetics · 1996 · 216 citations

Life Sciences, Genetics, Molecular Genetics +13

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum

Michael D. Briggs, Geert Mortier, William G. Cole et al. · The American Journal of Human Genetics · 1998 · 184 citations · Full text

Medicine, Genetics, Molecular Genetics +13