Article
Novel Homozygous ADAMTS2 Variants and Associated Disease Phenotypes in Dogs with Dermatosparactic Ehlers-Danlos Syndrome.
Genes - 19 Nov 2022
Jaffey Jared A, Bullock Garrett, Guo Juyuan, Mhlanga-Mutangadura Tendai, O'Brien Dennis P, Coates Joan R, Morrissey Rochelle, Hutchison Robert, Donnelly Kevin S, Cohn Leah A, Katz Martin L, Johnson Gary S
Abstract excerpt
Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers-Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility and caused by biallelic ADAMTS2 mutations. We report two novel, ADAMTS2 variants in DNA from EDS-affected dogs. Separate whole-genome sequences from a Pit Bull Terrier...
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