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Epiphyseal dysplasia, multiple, 5

*Gene map locus 2p24-p23
Multiple epiphyseal dysplasia, MATN3-related
[Clinical features: easy fatigue and joint pain, mainly in the knees and hips; osteoarthrosis]
[Inheritance: autosomal dominant]

Missense mutations in the {beta} strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia
Journal of Medical Genetics
Nature Genetics

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Edited by Aldo Campana, December 10, 2015