{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:40:04Z","timestamp":1760740804473,"version":"build-2065373602"},"reference-count":4,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,8]]},"abstract":"<jats:p>Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.<\/jats:p>","DOI":"10.1136\/jmg.29.8.589","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"589-591","source":"Crossref","is-referenced-by-count":4,"title":["Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome."],"prefix":"10.1136","volume":"29","author":[{"given":"J R","family":"Ward","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Saad de Owens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I A","family":"Sierra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,8,1]]},"reference":[{"issue":"22","key":"ref_1","first-page":"236","article-title":"Familial heart disease with skeletal malformation","volume":"1960","author":"Holt, M.; Oram, S.","unstructured":"Holt M, Oram S. Familial heart disease with skeletal malformation. Br Heart J 1960;22:236-42.","journal-title":"Br Heart J"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/S0022-3476(73)80268-9","article-title":"The lacrimo-auriculo-dento-digital syndrome","volume":"83","author":"Hollister, D.W.; Klein, S.H.; De Jager, H.J.; Lachman, R.S.; Rimoin, D.L.","year":"1973","unstructured":"Hollister DW, Klein SH, De Jager HJ, Lachman RS, Rimoin DL. The lacrimo-auriculo-dento-digital syndrome. J Pediatr 1973;83:438-44.","journal-title":"J Pediatr"},{"key":"ref_3","first-page":"10","article-title":"Autosomal dominant asymmetrical dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)","volume":"1","author":"Harding, A.E.; Hall, C.M.; Baraitser, M.","year":"1982","unstructured":"Harding AE, Hall CM, Baraitser M. Autosomal dominant asymmetrical dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia). J Med Genet 1982;19:1 10-5.","journal-title":"J Med Genet"},{"key":"ref_4","first-page":"216","article-title":"Smith's recognizable patterns of human malformation","author":"Jones, K.L.","year":"1988","unstructured":"Jones KL. Smith's recognizable patterns of human malformation. 4th ed. Philadelphia: Saunders, 1988:216-9, 274-5.","edition":"4th ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.8.589","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:12:23Z","timestamp":1760739143000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.8.589"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,8]]},"references-count":4,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1992,8,1]]},"published-print":{"date-parts":[[1992,8]]}},"alternative-id":["10.1136\/jmg.29.8.589"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.8.589","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,8]]}}}