{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T10:37:56Z","timestamp":1785148676231,"version":"3.55.0"},"reference-count":71,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2021,6,20]],"date-time":"2021-06-20T00:00:00Z","timestamp":1624147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["R01AR067715"],"award-info":[{"award-number":["R01AR067715"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["R01AR070299"],"award-info":[{"award-number":["R01AR070299"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Eunice Kennedy Shriver National Institutes of Child Health and Human Development of the National Institutes of Health","award":["R03 HD104065"],"award-info":[{"award-number":["R03 HD104065"]}]},{"name":"Eunice Kennedy Shriver National Institutes of Child Health and Human Development of the National Institutes of Health","award":["P01 HD084387"],"award-info":[{"award-number":["P01 HD084387"]}]},{"name":"National Center for Advancing Translational Sciences of the National Institutes of Health","award":["UL1 TR002345"],"award-info":[{"award-number":["UL1 TR002345"]}]},{"name":"NIH\/NIAMS","award":["P30 AR057235"],"award-info":[{"award-number":["P30 AR057235"]}]},{"name":"NIH\/NIAMS","award":["P30 AR074992"],"award-info":[{"award-number":["P30 AR074992"]}]},{"name":"Eunice Kennedy Shriver National Institute of Child Health &amp; Human Development of the National Institutes of Health","award":["P50 HD103525"],"award-info":[{"award-number":["P50 HD103525"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Distal arthrogryposis and lethal congenital contracture syndromes describe a broad group of disorders that share congenital limb contractures in common. While skeletal muscle sarcomeric genes comprise many of the first genes identified for Distal Arthrogyposis, other mechanisms of disease have been demonstrated, including key effects on peripheral nerve function. While Distal Arthrogryposis and Lethal Congenital Contracture Syndromes display superficial similarities in phenotype, the underlying mechanisms for these conditions are diverse but overlapping. In this review, we discuss the important insights gained into these human genetic diseases resulting from in vitro molecular studies and in vivo models in fruit fly, zebrafish, and mice.<\/jats:p>","DOI":"10.3390\/genes12060943","type":"journal-article","created":{"date-parts":[[2021,6,20]],"date-time":"2021-06-20T22:00:02Z","timestamp":1624226402000},"page":"943","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3559-9298","authenticated-orcid":false,"given":"Julia","family":"Whittle","sequence":"first","affiliation":[{"name":"Department of Neurology, Washington University in St Louis, St Louis, MO 63130, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology, Washington University in St Louis, St Louis, MO 63130, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew B.","family":"Dobbs","sequence":"additional","affiliation":[{"name":"Paley Orthopaedic and Spine Institute, West Palm Beach, FL 33407, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina A.","family":"Gurnett","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University in St Louis, St Louis, MO 63130, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,6,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/j.ejmg.2014.03.008","article-title":"Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles","volume":"57","author":"Hall","year":"2014","journal-title":"Eur. 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