{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T04:11:59Z","timestamp":1793765519333,"version":"4.6.1"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T00:00:00Z","timestamp":1712102400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["F.NO.33\/26\/2019\u2010TF\/Rare\/BMS"],"award-info":[{"award-number":["F.NO.33\/26\/2019\u2010TF\/Rare\/BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or without scoliosis could be an important early pointer to DA5D. We also report a possible founder variant in\n                    <jats:italic>ECEL1<\/jats:italic>\n                    along with four novel variants and further expand the genotypic spectrum of DA5D.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63592","type":"journal-article","created":{"date-parts":[[2024,4,3]],"date-time":"2024-04-03T09:39:10Z","timestamp":1712137150000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>ECEL1<\/scp>\n                    related distal arthrogryposis\n                    <scp>5D<\/scp>\n                    in an Indian cohort\u2014Report of recognizable musculoskeletal phenotype and a possible founder variant"],"prefix":"10.1002","volume":"194","author":[{"given":"Mounika","family":"Endrakanti","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics All India Institute of Medical Sciences  New Delhi 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