Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers–Danlos syndrome

We investigated 4 European domestic shorthair kittens with skin lesions consistent with the dermatosparaxis type of the Ehlers–Danlos syndrome, a connective tissue disorder. The kittens were sired by the same tomcat but were born by 3 different mothers. The kittens had easily torn skin resulting in...

Descripción completa

Detalles Bibliográficos
Autores principales: Simon, Rebecca, Kiener, Sarah, Thom, Nina, Schäfer, Laura, Müller, Janina, Schlohsarczyk, Elfi K, Gärtner, Ulrich, Herden, Christiane, Leeb, Tosso, Lühken, Gesine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468306/
https://www.ncbi.nlm.nih.gov/pubmed/37462293
http://dx.doi.org/10.1093/g3journal/jkad152

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468306/
https://www.ncbi.nlm.nih.gov/pubmed/37462293
http://dx.doi.org/10.1093/g3journal/jkad152

Ejemplares similares