Google   OMIM   PubMed   [Epiphyseal dysplasia, multiple]

Epiphyseal dysplasia, multiple, 5

*Gene map locus 2p24-p23
EDM5
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
 


Search with keyword(s) Wildcard = *
          


Print this page

Edited by Aldo Campana, July 4, 2014