Epiphyseal dysplasia, multiple, 3

*Gene map locus 20q13.3

EDM3

Epiphyseal dysplasia, multiple, with myopathy

[Clinical features: mild short stature; hip arthrosis; osteoarthritis; small, irregular, late ossifying epiphyses; short metacarpals; myopathy]

[Inheritance: autosomal dominant]


COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia	A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations	A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations
American Journal of Human Genetics	Journal of Medical Genetics	Journal of Medical Genetics


A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations	A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy	A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
Journal of Medical Genetics	Proceedings of the National Academy of Sciences of the United States of America	Proceedings of the National Academy of Sciences of the United States of America

Search with keyword(s) And Or Wildcard = *


Print this page

Edited by Aldo Campana, August 21, 2012