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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia

โœ Scribed by Chapman, Kathryn L.; Mortier, Geert R.; Chapman, Kay; Loughlin, John; Grant, Michael E.; Briggs, Michael D.


Book ID
109919644
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
833 KB
Volume
28
Category
Article
ISSN
1061-4036

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Novel and recurrent mutations clustered
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Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by joint pain and stiffness, delayed and irregular ossification of epiphyses, and early-onset osteoarthritis. Six genes responsible for MED have been identified, including COMP, COL9A1, COL9A2, COL9A3, DSTDT and MATN3.

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Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood. Mutations in the matrilin-3 gene (MATN3)