Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference30 articles.
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2. Genetic diseases of connective tissues: Cellular and extracellular effects of ECM mutations;Bateman;Nat Rev Genet,2009
3. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy;Bonnemann;Proc Natl Acad Sci USA,2000
4. Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations;Briggs;Hum Mutat,2002
5. Dysplasia epiphysialis multiplex;Fairbank;Proc R Soc Med (Ortho Sec),1947
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