{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T13:23:19Z","timestamp":1756992199545},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9284,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family in which many persons have generalized joint laxity frequently complicated by dislocation of major joints. The condition is an autosomal dominant trait, with high penetrance. The disorder observed in this family and in others from the literature appears to be a specific syndrome that can be distinguished from other familial forms of joint laxity such as simple familial joint laxity and the Ehlers\u2010Danlos syndromes. It has been designated the familial joint instability syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320060306","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:35:55Z","timestamp":1118511355000},"page":"221-228","source":"Crossref","is-referenced-by-count":30,"title":["Familial joint instability syndrome"],"prefix":"10.1002","volume":"6","author":[{"given":"William A.","family":"Horton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra L.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur A.","family":"DeSmet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James A.","family":"Kennedy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Neil","family":"Schimke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-196400330-00010"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.7.4.315"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1302\/0301-620X.52B4.704","article-title":"Acetabular dysplasia and familial joint laxity, two etiologic factors in congenital dislocation of the hip","volume":"52","author":"Wynne\u2010Davies R","year":"1970","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01717.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.28.3.228"},{"key":"e_1_2_1_7_2","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick VA","year":"1972"},{"key":"e_1_2_1_8_2","first-page":"333","article-title":"Procollagen peptidase deficiency in a form of the Ehlers\u2010Danlos syndrome","volume":"86","author":"Lichtenstein JR","year":"1973","journal-title":"Trans Assoc Am Physicians"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1302\/0301-620X.40B4.664","article-title":"Familial joint laxity and recurrent dislocations of the patella","volume":"40","author":"Carter C","year":"1958","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_10_2","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1302\/0301-620X.42B4.721","article-title":"Recurrent dislocation of the patella and of the shoulder, their association with familial joint laxity","volume":"42","author":"Carter C","year":"1960","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1302\/0301-620X.52B1.145","article-title":"Dominant inheritance in familial generalized articular hypermobility","volume":"52","author":"Beighton PH","year":"1970","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_12_2","series-title":"National Foundation\u2010March of Dimes. Birth Defects: Original Article Series XIII, (5)","first-page":"287","volume-title":"Cytogenetics, Environment and Malformation Syndromes","author":"Shapiro SD","year":"1976"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.2106\/00004623-195840030-00015"},{"key":"e_1_2_1_14_2","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1302\/0301-620X.46B1.40","article-title":"Persistent joint laxity and congenital dislocation of the hip","volume":"46","author":"Carter C","year":"1964","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.26.5.419"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4109.298"},{"key":"e_1_2_1_17_2","first-page":"203","article-title":"Evidence for a structural mutation of procollagen in a patient with Ehlers\u2010Danlos syndrome type VII","volume":"130","author":"Steinmann B","year":"1979","journal-title":"Eur J Pediatr"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197907053010104"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320060306","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320060306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:15:36Z","timestamp":1699834536000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320060306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,1]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1980,1]]}},"alternative-id":["10.1002\/ajmg.1320060306"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320060306","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,1]]}}}