{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T12:04:00Z","timestamp":1776081840855,"version":"3.50.1"},"reference-count":11,"publisher":"Necmettin Erbakan University Press","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Ehlers\u2013Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the TNXB gene have been recognized as pathogenic causing classical-like EDS due to tenascin-X deficiency. Here, we have reported a unique case of compound heterozygous mutation in TNXB gene leading to esophageal stricture and scarred skin in a 7-year-old boy who presented to us with impacted foreign body in esophagus. The child was also having tendency to atrophic skin scarring secondary to trivial trauma.<\/jats:p>","DOI":"10.1055\/s-0041-1724048","type":"journal-article","created":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T20:16:30Z","timestamp":1614284190000},"page":"224-226","source":"Crossref","is-referenced-by-count":1,"title":["Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene"],"prefix":"10.53391","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1120-0169","authenticated-orcid":false,"given":"Nida","family":"Mirza","sequence":"additional","affiliation":[{"name":"Indraprastha Apollo Hospital, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sundeep","family":"Upadhyaya","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Indraprastha Apollo Hospital, New Delhi"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sagar","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smita","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupam","family":"Sibal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2021,2,25]]},"reference":[{"issue":"01","key":"ref1","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/ng0997-104","article-title":"Tenascin-X deficiency is associated with Ehlers-Danlos 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Genet"},{"issue":"01","key":"ref5","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/ajmg.a.30671","article-title":"Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome","volume":"135","author":"N M Lindor","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"05","key":"ref6","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1111\/1346-8138.12829","article-title":"Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency","volume":"42","author":"T Sakiyama","year":"2015","journal-title":"J Dermatol"},{"issue":"03","key":"ref7","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1111\/cge.12853","article-title":"Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients","volume":"91","author":"S Demirdas","year":"2017","journal-title":"Clin Genet"},{"issue":"06","key":"ref8","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1111\/j.1365-2133.2010.09949.x","article-title":"Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature","volume":"163","author":"M O'Connell","year":"2010","journal-title":"Br J Dermatol"},{"issue":"01","key":"ref9","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1097\/MCD.0b013e32834c4bb7","article-title":"Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases","volume":"21","author":"A G Hendriks","year":"2012","journal-title":"Clin Dysmorphol"},{"issue":"03","key":"ref10","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1097\/ALN.0b013e3181e19c0f","article-title":"Trachea rupture in tenascin-X-deficient type Ehlers-Danlos syndrome","volume":"113","author":"A Besselink-Lobanova","year":"2010","journal-title":"Anesthesiology"},{"issue":"11","key":"ref11","doi-asserted-by":"crossref","first-page":"843","DOI":"10.3390\/genes10110843","article-title":"Clinical and molecular characterization of classical-like Ehlers-Danlos syndrome due to a novel TNXB variant","volume":"10","author":"D Rymen","year":"2019","journal-title":"Genes (Basel)"}],"container-title":["Journal of Pediatric 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