{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:39:31Z","timestamp":1760729971580,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,6]]},"abstract":"<jats:p>A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born to healthy, consanguineous parents. The mode of inheritance is compatible with that of an autosomal recessive disorder. The identification of this variant is important, as it enables more precise counselling in families in which sporadic cases with this form of presentation are found.<\/jats:p>","DOI":"10.1136\/jmg.24.6.366","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"366-369","source":"Crossref","is-referenced-by-count":13,"title":["Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation."],"prefix":"10.1136","volume":"24","author":[{"given":"G","family":"Kohn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E R","family":"Elrayyes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Makadmah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"R\u00f6sler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Gr\u00fcnebaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,6,1]]},"reference":[{"key":"ref_1","first-page":"105","article-title":"Diviaanic classification of bonie dAsplasia","author":"Rubin, P.","year":"1964","unstructured":"Rubin P. Diviaanic classification of bonie dAsplasia. Chicago: Year Book Mcedical Publishers. 1964:105-20."},{"issue":"82","key":"ref_2","first-page":"833","article-title":"Silvcrman FN Spond0slocpiphNscal dvsplasia tarda. Senori Roetntgeniol 1973: 8: 29. + Langcr LO Jr. Sponds locpiphvscal dysplasil tarda. I lcrcfitarv chondrodvsplasia with chairctcristic vcrtcbral configiuration in the adult","volume":"1964","unstructured":"Silvcrman FN Spond0slocpiphNscal dvsplasia tarda. Senori Roetntgeniol 1973:8:29. + Langcr LO Jr. Sponds locpiphvscal dysplasil tarda. I lcrcfitarv chondrodvsplasia with chairctcristic vcrtcbral configiuration in the adult. Radiology 1964 82:833-9.","journal-title":"Radiology"},{"issue":"9","key":"ref_3","first-page":"\"19","article-title":"Spondylo-cpiphyscal dysplaslas. Bit-il Defects","volume":"1","author":"LO, Sprangcr J.Langcr","year":"1974","unstructured":"Sprangcr J. Langcr LO. Spondylo-cpiphyscal dysplaslas. Bit-il Defects 1974:1(9): 19-61 Connor JM. Evans DAP. Sardharwalla IB. An adult emleMC with spondylocpiphsscal dysplasia tarda. J NMetd Genel 1982:19: 234-6.","journal-title":"J NMetd Genel; Connor JM. Evans DAP. Sardharwalla IB. An adult emleMC with spondylocpiphsscal dysplasia tarda"},{"key":"ref_4","article-title":"Tibial hypoplasia associated with polydactyly has been described by several authors. l-5 All patients Rccciscd for publicaition","volume-title":"Il","year":"1980","unstructured":"Tibial hypoplasia associated with polydactyly has been described by several authors. l-5 All patients Rccciscd for publicaition Il March 1980. AcLcpted for publication 16 April 1986."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.6.366","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:44:21Z","timestamp":1759689861000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.6.366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,6]]},"references-count":4,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1987,6,1]]},"published-print":{"date-parts":[[1987,6]]}},"alternative-id":["10.1136\/jmg.24.6.366"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.6.366","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,6]]}}}