{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T06:54:05Z","timestamp":1769756045443,"version":"3.49.0"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T00:00:00Z","timestamp":1718496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Musculocontractural Ehlers\u2013Danlos syndrome (MC\u2010EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (<jats:italic>CHST14<\/jats:italic>) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in <jats:italic>CHST14<\/jats:italic> was detected by exome sequencing.<\/jats:p>","DOI":"10.1111\/pde.15653","type":"journal-article","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T05:24:35Z","timestamp":1718601875000},"page":"1170-1173","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Musculocontractural type of <scp>Ehlers\u2013Danlos<\/scp> syndrome with novel <scp><i>CHST14<\/i><\/scp> pathogenic variant in two siblings"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1214-2925","authenticated-orcid":false,"given":"Aswanth","family":"KS","sequence":"first","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences  Rishikesh Uttarakhand India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8679-6307","authenticated-orcid":false,"given":"Namrata","family":"Sarkar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy All India Institute of Medical Sciences  Rishikesh Uttarakhand India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riti","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Leprosy All India Institute of Medical Sciences  Rishikesh Uttarakhand India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Orthopedics All India Institute of Medical Sciences  Rishikesh Uttarakhand India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shruti","family":"Sharma","sequence":"additional","affiliation":[{"name":"ICMR, National Institute of Pathology, Safdarjung Hospital Campus  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant Kumar","family":"Verma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics All India Institute of Medical Sciences  Rishikesh Uttarakhand India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,16]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31552"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11010043"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37383"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107623"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2023.01.034"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.15653","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,20]],"date-time":"2024-11-20T08:53:52Z","timestamp":1732092832000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.15653"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,16]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1111\/pde.15653"],"URL":"https:\/\/doi.org\/10.1111\/pde.15653","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,16]]},"assertion":[{"value":"2023-12-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}