Article
Multiple epiphyseal dysplasia.
The Journal of the American Academy of Orthopaedic Surgeons - 1 Mar 2015
Anthony Steven, Munk Richard, Skakun William, Masini Michael
Abstract excerpt
Multiple epiphyseal dysplasia is a genotypically and phenotypically heterogeneous disorder affecting the epiphysis of long bones. Inheritance may be autosomal dominant or autosomal recessive. Autosomal dominant variants include mutations of the collagen oligomeric matrix protein, collagen type IX α-1, collagen type IX α-2, collagen type IX α-3, and matrilin-3 genes. The autosomal recessive variant is caused by a...
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