1. Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
- Author
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Packer, R.A., Logan, M.A., Guo, L.T., Apte, S.S., Bader, H., O'Brien, D.P., Johnson, G., and Shelton, G.D.
- Subjects
PHENOTYPES ,BEAGLE (Dog breed) ,CONNECTIVE tissue disease genetics ,GENETIC mutation ,DYSPLASIA ,DISEASES - Abstract
Musladin-Lueke syndrome ( MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s. Recent research identified a founder mutation (c.660C>T; p.R221C) in the ADAMTSL2 gene in Beagles with MLS. Here, we report the detailed clinical phenotype and laboratory findings in 2 Beagles affected with MLS. We discuss these findings in relation to the human disorder geleophysic dysplasia ( GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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