{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T09:41:39Z","timestamp":1783762899454,"version":"3.55.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T00:00:00Z","timestamp":1562803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007165","name":"University of Missouri","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007165","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>An eight\u2010week old Doberman Pinscher was diagnosed with Ehlers Danlos syndrome based on the dog's hyper\u2010mobile carpal, tarsal and stifle joints and abnormal skin. The skin was loose and hyper\u2010elastic with several wounds and large atrophic scars. The dog was euthanized after a severe degloving injury from minimal trauma. A whole\u2010genome sequence, generated with <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> from the dog's blood, contained a rare, homozygous C\u2010to\u2010T transition at position 2408978 on chromosome 11. This transition is predicted to alter the <jats:italic><jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>2<\/jats:italic> transcript (<jats:italic><jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>2:<\/jats:italic>c.769C&gt;T) and encode a nonsense mutation (p.Arg257Ter). Biallelic <jats:italic><jats:styled-content style=\"fixed-case\">ADAMTS<\/jats:styled-content>2<\/jats:italic> mutations have caused a type of Ehlers Danlos syndrome known as dermatosparaxis in other species.<\/jats:p>","DOI":"10.1111\/age.12825","type":"journal-article","created":{"date-parts":[[2019,7,11]],"date-time":"2019-07-11T14:42:03Z","timestamp":1562856123000},"page":"543-545","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["A homozygous <i><scp>ADAMTS<\/scp>2<\/i> nonsense mutation in a Doberman Pinscher dog with Ehlers Danlos syndrome and extreme skin fragility"],"prefix":"10.1111","volume":"50","author":[{"given":"J. A.","family":"Jaffey","sequence":"first","affiliation":[{"name":"Department of Small Animal Medicine and Surgery Midwestern University Glendale 85308 AZ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Bullock","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology University of Missouri Columbia 65211 MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Teplin","sequence":"additional","affiliation":[{"name":"South Willamette Veterinary Clinic 55 Emerald Parkway Creswell 97426 OR USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology University of Missouri Columbia 65211 MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. A.","family":"Villani","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology University of Missouri Columbia 65211 MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Mhlanga\u2010Mutangadura","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology University of Missouri Columbia 65211 MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. D.","family":"Schnabel","sequence":"additional","affiliation":[{"name":"Division of Animal Sciences University of Missouri Columbia 65211 MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. A.","family":"Cohn","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery University of Missouri Columbia 65211 MO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2225-3204","authenticated-orcid":false,"given":"G. 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