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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...
Autores principales: | Simon, Rebecca, Kiener, Sarah, Thom, Nina, Schäfer, Laura, Müller, Janina, Schlohsarczyk, Elfi K, Gärtner, Ulrich, Herden, Christiane, Leeb, Tosso, Lühken, Gesine |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
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 |
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