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Van den Ende-Gupta Syndrome (VDEGS) is a hereditary skeletal disorder.
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Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 26 |
| Mutation | c.1873_1874del |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | VDEGS |
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
Los perros afectados tienen una mordida inferior prominente debido a una mandíbula superior corta (maxilar). Otras manifestaciones clínicas incluyen luxación del codo o la rótula (rótula dislocada), inflamación de las articulaciones de la rodilla y deformidades esqueléticas como piernas arqueadas.
Información adicional
Referencias
Pubmed ID: 27187611
Year published: 2016
Omia ID: 002016
Omia variant ID: