{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T16:01:06Z","timestamp":1790524866470,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T00:00:00Z","timestamp":1426204800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ehlers\u2013Danlos syndrome (<jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content>) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome\u2010sequencing system we identified nonsense mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TNXB<\/jats:styled-content><\/jats:italic> in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin\u2010X deficient type <jats:styled-content style=\"fixed-case\">EDS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/1346-8138.12829","type":"journal-article","created":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T13:32:05Z","timestamp":1426253525000},"page":"511-514","source":"Crossref","is-referenced-by-count":27,"title":["Recurrent gastrointestinal perforation in a patient with Ehlers\u2013Danlos syndrome due to tenascin\u2010X deficiency"],"prefix":"10.1111","volume":"42","author":[{"given":"Tomo","family":"Sakiyama","sequence":"first","affiliation":[{"name":"Division of Dermatology Ogikubo Hospital Tokyo Japan"},{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiharu","family":"Kubo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Department of Dermatology Keio University School of Medicine Tokyo Japan"},{"name":"KOS\u00c9 Endowed Program for Skin Care and Allergy Prevention Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taketo","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Pathology Keio University School of Medicine Tokyo Japan"},{"name":"Department of Pathology Saitama Medical University Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobushige","family":"Yabe","sequence":"additional","affiliation":[{"name":"Division of Surgery Ogikubo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken\u2010ichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Biosignaling and Radioisotope Experiment Interdisciplinary Center for Science Research Organization for Research Shimane University Shimane Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Futei","sequence":"additional","affiliation":[{"name":"Division of Dermatology Ogikubo Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,13]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"Online Mendelian Inheritance in Man (130000 130010 130020 130050 130060 130070 130080 130090 225310 225320 225400 225410 300537 305200 601776 615539 606408 608763 612350 614557 615349). 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