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

Abstract 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 resu...

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Veröffentlicht in:	G3 : genes - genomes - genetics 2023-09, Vol.13 (9)
Hauptverfasser:	Simon, Rebecca, Kiener, Sarah, Thom, Nina, Schäfer, Laura, Müller, Janina, Schlohsarczyk, Elfi K, Gärtner, Ulrich, Herden, Christiane, Leeb, Tosso, Lühken, Gesine
Format:	Artikel
Sprache:	eng
Schlagworte:	Cats Collagen Ehlers-Danlos syndrome Gene mutations Genomes Genomics Investigation Medical research Medicine, Experimental Skin
Online-Zugang:	Volltext
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