Article
Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.
G3 (Bethesda, Md.) - 30 Aug 2023
Simon Rebecca, Kiener Sarah, Thom Nina, Schäfer Laura, Müller Janina, Schlohsarczyk Elfi K, Gärtner Ulrich, Herden Christiane, Leeb Tosso, Lühken Gesine
Abstract excerpt
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 nonhealing skin wounds. Both clinically and histologically, the skin showed thin epidermis in addition to...
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