{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:36Z","timestamp":1761101856435,"version":"build-2065373602"},"reference-count":1,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:p>A girl with slowly progressive difficulty in walking, dysarthria, growth retardation, brachydactyly, and cone shaped epiphyses is described. This constellation of symptoms was described in 1987 by Fitzsimmons and Guilbert. It probably represents a rare mendelian disorder of unknown cause.<\/jats:p>","DOI":"10.1136\/jmg.31.3.251","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"251-252","source":"Crossref","is-referenced-by-count":8,"title":["Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome."],"prefix":"10.1136","volume":"31","author":[{"given":"R C","family":"Hennekam","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1136\/jmg.24.11.702","article-title":"Spastic paraplegia associated with brachydactyly and cone shaped epiphyses","volume":"24","year":"1987","unstructured":"Fitzsimmons JS, Guilbert PR. Spastic paraplegia associated with brachydactyly and cone shaped epiphyses. _7 Med Genet 1987;24:702-5.","journal-title":"_7 Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.3.251","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:37:34Z","timestamp":1760762254000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.3.251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":1,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1994,3,1]]},"published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1136\/jmg.31.3.251"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.3.251","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}