A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
Carsten G. Bönnemann, Gerald F. Cox, Frederic Shapiro and 7 more
Proceedings of the National Academy of Sciences of the United States of America · 2000 · Case report
doi:10.1073/pnas.97.3.1212 (opens in a new tab)
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