{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T16:53:23Z","timestamp":1781196803878,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T00:00:00Z","timestamp":1407196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"crossref","award":["BMS- 63\/8\/2010"],"award-info":[{"award-number":["BMS- 63\/8\/2010"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the <jats:italic>ECEL1<\/jats:italic> gene. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36702","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T18:03:38Z","timestamp":1407261818000},"page":"2857-2862","source":"Crossref","is-referenced-by-count":18,"title":["Distal arthrogryposis type 5D with a novel <i>ECEL1<\/i> gene mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Siddaramappa J.","family":"Patil","sequence":"first","affiliation":[{"name":"Centre for Molecular and Metabolic Diagnostics &amp; Research Narayana Hrudayalaya Hospitals Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaurava Kumar","family":"Rai","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatraman","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Radiology Narayana Hrudayalaya Hospitals Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vakkalagadda A.","family":"Ramesh","sequence":"additional","affiliation":[{"name":"Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.A.","family":"Nagarajaram","sequence":"additional","affiliation":[{"name":"Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyoti","family":"Matalia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology Narayana Netralaya Hospitals Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21642"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(05)80360-2"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M"},{"key":"e_1_2_7_5_1","first-page":"1483","article-title":"The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis","volume":"15","author":"Dieterich K","year":"2012","journal-title":"Hum Mol Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.1150181505"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0263-7855(96)00018-5"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm404"},{"key":"e_1_2_7_9_1","doi-asserted-by":"crossref","unstructured":"McMillinMJ BelowJE ShivelyKM BeckAE GildersleeveHI PinnerJ GogolaGR HechtJT GrangeDK HarrisDJ EarlDL JagadeeshS MehtaSG RobertsonSP SwansonJM FaustmanEM MeffordHC ShendureJ NickersonDA BamshadMJ.2013. 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