{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:40:03Z","timestamp":1760769603667,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,4]]},"abstract":"<jats:p>A family is described containing three sibs with holoprosencephaly. They showed a striking diversity of both cerebral and facial abnormalities. Autosomal recessive inheritance seems most likely. Because of the great variety in expression of this disorder, it is of importance for genetic counselling to examine both sibs and parents.<\/jats:p>","DOI":"10.1136\/jmg.26.4.274","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"274-276","source":"Crossref","is-referenced-by-count":8,"title":["Holoprosencephaly: variation of expression in face and brain in three sibs."],"prefix":"10.1136","volume":"26","author":[{"given":"C P","family":"Zwetsloot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O F","family":"Brouwer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P D","family":"Maaswinkel-Mooy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,4,1]]},"reference":[{"issue":"50","key":"ref_1","first-page":"225","article-title":"Holoprosencephaly (cyclopia-arhinencephaly)","volume-title":"Handbook of clinical neurology","volume":"6","author":"DeMyer, W.","year":"1987","unstructured":"DeMyer W. Holoprosencephaly (cyclopia-arhinencephaly). In: Myrianthopoulos NC, ed. Handbook of clinical neurology. Vol 6(50). Amsterdam: Elsevier Science, 1987:225-44."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0022-3476(68)80403-2","article-title":"Familial holoprosencephaly with endocrine dysgenesis","volume":"72","author":"Hintz, R.L.; Menking, M.; Sotos, J.F.","year":"1968","unstructured":"Hintz RL, Menking M, Sotos JF. Familial holoprosencephaly with endocrine dysgenesis. J Pediatr 1968;72:81-7.","journal-title":"J Pediatr"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1212\/WNL.13.11.913","article-title":"Familiar alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate","volume":"13","author":"DeMyer, W.; Zeman, W.; Palmer, C.G.","year":"1963","unstructured":"DeMyer W, Zeman W, Palmer CG. Familiar alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate. Neurology (Minneap) 1963;13:913-8.","journal-title":"Neurology (Minneap)"},{"key":"ref_4","first-page":"125","article-title":"Holoprosencephaly and facial dysmorphia: nosology, aetiology and pathogenesis","volume":"7","author":"Cohen, M.M.; Jirasek, J.E.; Guzman, R.T.; Gorlin, R.J.; Peterson, M.Q.","year":"1971","unstructured":"Cohen MM, Jirasek JE, Guzman RT, Gorlin RJ, Peterson MQ. Holoprosencephaly and facial dysmorphia: nosology, aetiology and pathogenesis. Birth Defects 1971;7:125-35.","journal-title":"Birth Defects"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/S0022-3476(82)80349-1","article-title":"An update on the holoprosencephalic disorders","volume":"101","author":"Cohen, M.M.","year":"1982","unstructured":"Cohen MM. An update on the holoprosencephalic disorders. J Pediatr 1982;101:865-9.","journal-title":"J Pediatr"},{"key":"ref_6","first-page":"294","article-title":"Holoprosencephaly: birth data, genetic and demographic analysis of 30 families","volume":"11","author":"Roach, E.; DeMyer, W.; Conneally, P.M.; Palmer, C.; Merritt, A.D.","year":"1975","unstructured":"Roach E, DeMyer W, Conneally PM, Palmer C, Merritt AD. Holoprosencephaly: birth data, genetic and demographic analysis of 30 families. Birth Defects 1975;11:294-313.","journal-title":"Birth Defects"},{"key":"ref_7","article-title":"SUMMARY Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence Received for publication","volume-title":"Revised version accepted for publication","year":"1988","unstructured":"SUMMARY Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence Received for publication 8 July 1988. Revised version accepted for publication 21 September 1988."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.4.274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:23:24Z","timestamp":1760768604000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.4.274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,4]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1989,4,1]]},"published-print":{"date-parts":[[1989,4]]}},"alternative-id":["10.1136\/jmg.26.4.274"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.4.274","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,4]]}}}