An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures

BACKGROUND: Musladin-Lueke Syndrome (MLS) is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, a m...

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Detalhes bibliográficos
Main Authors: Bader, Hannah L., Ruhe, Alison L., Wang, Lauren W., Wong, Aaron K., Walsh, Kari F., Packer, Rebecca A., Mitelman, Jonathan, Robertson, Kathryn R., O'Brien, Dennis P., Broman, Karl W., Shelton, G. Diane, Apte, Suneel S., Neff, Mark W.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2941456/
https://ncbi.nlm.nih.gov/pubmed/20862248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0012817
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