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Van den end-Gupta Syndrome (Wire Fox Terrier Type) - SINGLE ASSAY TEST Overview

Van den end-Gupta Syndrome (Wire Fox Terrier Type) - SINGLE ASSAY TEST
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Category: Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene: SCARF2

Variant Detected: c.865_866delTC

Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.

Mode of Inheritance: Autosomal Recessive

Research Citation(s): 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. Hytönen, M.K., Lohi, H. :
Canine models of human rare disorders. Rare Dis 4:e1241362, 2016. Pubmed reference: 27803843. DOI: 10.1080/21675511.2016.1241362.


Associated Breed(s): Fox Terrier (Toy),  Wire Fox Terrier,