{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:58:25Z","timestamp":1760731105210,"version":"3.40.4"},"reference-count":14,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,9,1]]},"abstract":"<jats:p>Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (<jats:italic>CHST14<\/jats:italic>) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the<jats:italic>CHST14<\/jats:italic>gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.<\/jats:p>","DOI":"10.1136\/bcr-2018-226165","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T03:55:15Z","timestamp":1537761315000},"page":"bcr-2018-226165","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Novel mutation in the<i>CHST14<\/i>gene causing musculocontractural type of Ehlers-Danlos syndrome"],"prefix":"10.1136","volume":"2018","author":[{"given":"Sapna","family":"Sandal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,9,23]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Steinmann B , Royce PM , Superti-Furga A . 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