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Van den Ende-Gupta Syndrome

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Van den Ende-Gupta Syndrome
Mutation
c.865_866delTC
Mutation 2
c.865_866delTC
Test Type
Genetic Disease/Disorder
Details
Van den Ende-Gupta syndrome is a syndrome present from birth, causing severe undershot jaws and other skeletal features, and severe patellar luxation.
Details 2
Hytönen et al. (2016): "Wire Fox Terrier breeders contacted us for help in the characterization of an unknown congenital syndrome with severe mandibular prognathia and other skeletal features, mainly severe patellar luxation, in the breed"
Published
Hytönen, M.K., Arumilli, M., Lappalainen, A.K., Owczarek-Lipska, M., Jagannathan, V., Hundi, S., Salmela, E., Venta, P., Sarkiala, E., Jokinen, T., Gorgas, D., Kere, J., Nieminen, P., Drögemüller, C., Lohi, H. : Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet 12:e1006037, 2016. Pubmed reference: 27187611. DOI: 10.1371/journal.pgen.1006037.
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