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Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder.
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Especificaciones
| Breeds | |
|---|---|
| Organ | |
| Gene | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Mode of Inheritance | Autosómico recesivo |
| Chromosome | 26 |
| Also known as | VDEGS |
| Mutation | c.1873_1874del |
Información específica de la prueba
Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder. It is due to an autosomal recessive mutation in the scavenger receptor class F, member 2 (SCARF2) gene, which plays a critical role in the bone mineralization and skeletal development. VDEGS is characterized by significant skeletal abnormalities such as joint luxations and related orthopedic issues. It is a rare but severe disorder that is primarily seen in Wire Fox Terriers.
Características clínicas
Affected dogs have a prominent underbite due to a short upper jaw (maxilla). Other clinical manifestations include luxation of the elbow or patella (dislocated kneecap), swollen knee joints and skeletal deformities such as bowed legs.
Información adicional
Referencias
Pubmed ID: 27187611
Year published: 2016
Omia ID: 002016
Omia variant ID: