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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


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Edited by Aldo Campana, July 4, 2014