ArticleJournal of veterinary internal medicine2017
Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
Article in Journal of veterinary internal medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Comprehensive diagnosis and management of Musladin-Lueke Syndrome in a Beagle in Japan.The Journal of veterinary medical science · 2026Article
- The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.The American journal of pathology · 2026Article
- Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment.Molecular biology reports · 2024Review
- Article
- A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Article
- Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.Matrix biology : journal of the International Society for Matrix Biology · 2019Article
- High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders.Frontiers in endocrinology · 2019Review
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.