{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:38Z","timestamp":1761101858722,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1969,6]]},"DOI":"10.1136\/jmg.6.2.113","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:49:07Z","timestamp":1226328547000},"page":"113-120","source":"Crossref","is-referenced-by-count":41,"title":["Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance."],"prefix":"10.1136","volume":"6","author":[{"given":"L","family":"Dallaire","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1969,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S0022-3476(66)80094-X","article-title":"A syndrome characterized by mental retardation, short stature, craniofacial dysplasia and genital anomalies occurring in siblings","volume":"69","author":"Blair, H.R.; Martin, J.K.","year":"1966","unstructured":"Blair, H. R., and Martin, J. K. (1966). A syndrome characterized by mental retardation, short stature, craniofacial dysplasia and genital anomalies occurring in siblings. J. Pediat., 69, 457.","journal-title":"J. Pediat"},{"key":"ref_2","first-page":"459","article-title":"The syndrome of retardation with urogenital and skeletal anomalies in siblings","volume":"69","author":"Dallaire, L.; Fraser, F.C.","year":"1966","unstructured":"Dallaire, L., and Fraser, F. C. (1966). The syndrome of retardation with urogenital and skeletal anomalies in siblings. ibid., 69, 459.","journal-title":"ibid"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1001\/archpedi.1968.02100010485014","article-title":"Smith-Lemliciprocal translocation in the parents, involving, for instance, chromosome 18 and another autosome, Opitz syndrome. Radiologic and postmortem findings","volume":"115","author":"Fine, R.N.; Gwinn, J.L.; Young, E.F.","year":"1968","unstructured":"Fine, R. N., Gwinn, J. L., and Young, E. F. (1968). Smith-Lemliciprocal translocation in the parents, involving, for instance, chromosome 18 and another autosome, Opitz syndrome. Radiologic and postmortem findings. Amer. J. Dis. Child., 115, 483.","journal-title":"Amer. J. Dis. Child"},{"key":"ref_4","first-page":"574","article-title":"A case of the Smith-Lemli-Opitz syndrome of might remain undetectable in the affected child and the carrier parent. Furthermore, this would lead to the production of deficient or disomic gametes: it would then be expected that variations in the phenotype would occur between families, because of multiple congenital anomalies in association with dysplasia epiphysialis punctata","volume":"92","author":"Gibson, R.","year":"1965","unstructured":"Gibson, R. (1965). A case of the Smith-Lemli-Opitz syndrome of might remain undetectable in the affected child and the carrier parent. Furthermore, this would lead to the production of deficient or disomic gametes: it would then be expected that variations in the phenotype would occur between families, because of multiple congenital anomalies in association with dysplasia epiphysialis punctata. Canad. med. Ass. J., 92, 574.","journal-title":"Canad. med. Ass. J"},{"key":"ref_5","first-page":"37","article-title":"A familial syndrome of mental retardation in asssociation with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz","volume":"35","author":"Kenis, H.; Hustinx, W.J.","year":"1967","unstructured":"Kenis, H., and Hustinx, W. J. (1967). A familial syndrome of mental retardation in asssociation with multiple congenital anomalies resembling the syndrome of Smith-Lemli-Opitz. Maandschr. Kindergeneesk., 35, 37.","journal-title":"Maandschr. Kindergeneesk"},{"key":"ref_6","first-page":"302","article-title":"Dermatoglyphics in pediatric variations in length of the abnormal segment. In addition, one might find, in the same sibship, children with abnormal features resulting from the deletion of a segment and others with malformations resulting from the presence of a segment in triplipractice","volume":"69","author":"Miller, J.R.; Giroux, J.","year":"1966","unstructured":"Miller, J. R., and Giroux, J. (1966). Dermatoglyphics in pediatric variations in length of the abnormal segment. In addition, one might find, in the same sibship, children with abnormal features resulting from the deletion of a segment and others with malformations resulting from the presence of a segment in triplipractice. J. Pediat., 69, 302.","journal-title":"J. Pediat"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.; Battips, D.M.; Hungerford, D.A.","year":"1960","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell Res., 20, 613.","journal-title":"Exp. Cell Res"},{"key":"ref_8","article-title":"A familial syndrome of facial and skeletal anomalies associated with genital abnormality in cate","author":"Pinsky, L.; DiGeorge, A.M.","year":"1965","unstructured":"Pinsky, L., and DiGeorge, A. M. (1965). A familial syndrome of facial and skeletal anomalies associated with genital abnormality in cate."},{"key":"ref_9","first-page":"210","article-title":"A new recognized Summary syndrome of multiple congenital anomalies","volume":"64","author":"Smith, D.W.; Lemli, L.; Opitz, J.M.","year":"1964","unstructured":"Smith, D. W., Lemli, L., and Opitz, J. M. (1964). A new recognized Summary syndrome of multiple congenital anomalies. ibid., 64, 210.","journal-title":"ibid"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.6.2.113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:58:59Z","timestamp":1760720339000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.6.2.113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1969,6]]},"references-count":9,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1969,6,1]]},"published-print":{"date-parts":[[1969,6]]}},"alternative-id":["10.1136\/jmg.6.2.113"],"URL":"https:\/\/doi.org\/10.1136\/jmg.6.2.113","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1969,6]]}}}