{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T15:29:02Z","timestamp":1760887742829},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4024,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the clinical and radiological manifestations of the Jackson\u2010Weiss syndrome (JWS) in a large South Australian kindred. Radiological abnormalities not previously described in the hands include coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation. New radiological findings in the feet include coned epiphyses, hallux valgus, phalangeal, tarso\u2010navicular and calcaneo\u2010navicular fusions, and uniform absence of metatarsal fusions.<\/jats:p><jats:p>Absence of linkage to eight markers along the short arm of chromosome 7 excluded allelism between JWS and Saethre\u2010Chotzen syndrome at 7p21. No linkage was detected to <jats:italic>D5S211<\/jats:italic>, excluding allelism to another recently described cephalosyndactyly syndrome mapping to 5qter. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320510208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:12:13Z","timestamp":1118509933000},"page":"121-130","source":"Crossref","is-referenced-by-count":23,"title":["Jackson\u2010Weiss syndrome: Clinical and radiological findings in a large kindred and exclusion of the gene from 7p21 and 5qter"],"prefix":"10.1002","volume":"51","author":[{"given":"L. 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