{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:05:56Z","timestamp":1792166756836,"version":"4.4.0"},"reference-count":18,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,12]]},"abstract":"<jats:p>Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this population. Here, we report the exclusion of chromosome 17q21-q24 in eight typical MKS families of North African and Middle Eastern ancestry and provide evidence for genetic heterogeneity of this condition.<\/jats:p>","DOI":"10.1136\/jmg.34.12.1003","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1003-1006","source":"Crossref","is-referenced-by-count":15,"title":["Genetic heterogeneity of Meckel syndrome."],"prefix":"10.1136","volume":"34","author":[{"given":"J","family":"Roume","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H W","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Girlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Genin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,12,1]]},"reference":[{"issue":"7","key":"ref_1","first-page":"99","article-title":"Beschreibung Zweier, durch sehr aehnliche Bildungsabweichungen entseller erchwister","volume":"1822","author":"Meckel, J.F.","unstructured":"Meckel JF. Beschreibung Zweier, durch sehr aehnliche Bildungsabweichungen entseller erchwister. Dtsch Arch Physiol 1822;7:99-172.","journal-title":"Dtsch Arch Physiol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1002\/ajmg.1320180414","article-title":"The Meckel syndrome: clinicopathological findings in 67 patients","volume":"18","author":"Salonen, R.","year":"1984","unstructured":"Salonen R. The Meckel syndrome: clinicopathological findings in 67 patients. AmJMed Genet 1984;18:671-89.","journal-title":"AmJMed Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1002\/ajmg.1320180415","article-title":"The Meckel syndrome in Finland: epidemiologic and genetic aspects","volume":"18","author":"Salonen, R.; Norio, R.","year":"1984","unstructured":"Salonen R, Norio R. The Meckel syndrome in Finland: epidemiologic and genetic aspects. Amn JT Med Genet 1984;18: 691-8.","journal-title":"Amn JT Med Genet"},{"key":"ref_4","first-page":"21315","article-title":"The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24","volume-title":"Nat Genet","volume":"11","author":"Paavola, P.; Salonen, R.; Weissenbach, J.; Peltonen, L.","year":"1995","unstructured":"Paavola P, Salonen R, Weissenbach J, Peltonen L. The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 1995;11:21315."},{"key":"ref_5","first-page":"66","article-title":"Physical mapping of the Meckel syndrome at 17q21-q24 Eur Hum Geniet 1996; 4(suppl 1)","author":"Paavola, P.; Salonen, R.; Weissenbach, J.; Peltonen, L.","unstructured":"Paavola P, Salonen R, Weissenbach J, Peltonen L. 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DandyWalker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: a distinct entity or Meckel syndrome? Ain Med Genet 1991;39:294-8.","journal-title":"Ain Med Genet"},{"key":"ref_18","first-page":"669","article-title":"Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome","volume":"43","author":"Verloes, A.; Gillerot, Y.; Langhendries, J.P.; Fryns, J.P.; Koulischer, I.","year":"1991","unstructured":"Verloes A, Gillerot Y, Langhendries JP, Fryns JP, Koulischer I. Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am _7 Med Genet 1991;43: 669-77.","journal-title":"Am _7 Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.34.12.1003","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:00:12Z","timestamp":1759687212000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.34.12.1003"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,12]]},"references-count":18,"journal-issue":{"issue":"12","published-online":{"date-parts":[[1997,12,1]]},"published-print":{"date-parts":[[1997,12]]}},"alternative-id":["10.1136\/jmg.34.12.1003"],"URL":"https:\/\/doi.org\/10.1136\/jmg.34.12.1003","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,12]]}}}