{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T13:18:49Z","timestamp":1765545529715},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,9,10]],"date-time":"2008-09-10T00:00:00Z","timestamp":1221004800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2009,1]]},"DOI":"10.1038\/ejhg.2008.159","type":"journal-article","created":{"date-parts":[[2008,9,10]],"date-time":"2008-09-10T10:27:02Z","timestamp":1221042422000},"page":"125-128","source":"Crossref","is-referenced-by-count":18,"title":["An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4"],"prefix":"10.1038","volume":"17","author":[{"given":"Kimia","family":"Kahrizi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana","family":"Kariminejad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Payman","family":"Jamali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahdi","family":"Malekpour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans Hilger","family":"Ropers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas Walter","family":"Kuss","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,9,10]]},"reference":[{"key":"BFejhg2008159_CR1","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1002\/mrdd.10031","volume":"8","author":"H Leonard","year":"2002","unstructured":"Leonard H, Wen X : The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117\u2013134.","journal-title":"Ment Retard Dev Disabil Res Rev"},{"key":"BFejhg2008159_CR2","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1352\/0895-8017(2005)110[253:EOMRIC]2.0.CO;2","volume":"110","author":"CD van Karnebeek","year":"2005","unstructured":"van Karnebeek CD, Scheper FY, Abeling NG et al: Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard 2005; 110: 253\u2013267.","journal-title":"Am J Ment Retard"},{"key":"BFejhg2008159_CR3","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/s00439-006-0292-0","volume":"121","author":"H Najmabadi","year":"2007","unstructured":"Najmabadi H, Motazacker MM, Garshasbi M et al: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet 2007; 121: 43\u201348.","journal-title":"Hum Genet"},{"key":"BFejhg2008159_CR4","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1038\/nbt869","volume":"21","author":"GC Kennedy","year":"2003","unstructured":"Kennedy GC, Matsuzaki H, Dong S et al: Large-scale genotyping of complex DNA. Nat Biotechnol 2003; 21: 1233\u20131237.","journal-title":"Nat Biotechnol"},{"key":"BFejhg2008159_CR5","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1101\/gr.2014904","volume":"14","author":"H Matsuzaki","year":"2004","unstructured":"Matsuzaki H, Loi H, Dong S et al: Parallel genotyping of over 10\u2009000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res 2004; 14: 414\u2013425.","journal-title":"Genome Res"},{"key":"BFejhg2008159_CR6","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1007\/s00439-005-0104-y","volume":"118","author":"M Garshasbi","year":"2006","unstructured":"Garshasbi M, Motazacker MM, Kahrizi K et al: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006; 118: 708\u2013715.","journal-title":"Hum Genet"},{"key":"BFejhg2008159_CR7","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1086\/507567","volume":"79","author":"SA Lesnik Oberstein","year":"2006","unstructured":"Lesnik Oberstein SA, Kriek M, White SJ et al: Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 2006; 79: 562\u2013566.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008159_CR8","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1136\/jmg.25.1.41","volume":"25","author":"M Baraitser","year":"1988","unstructured":"Baraitser M, Winter RM : Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet 1988; 25: 41\u201343.","journal-title":"J Med Genet"},{"key":"BFejhg2008159_CR9","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1007\/s00439-004-1154-2","volume":"115","author":"U Bar-Yosef","year":"2004","unstructured":"Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS : CHX10 mutations cause non-syndromic microphthalmia\/anophthalmia in Arab and Jewish kindreds. Hum Genet 2004; 115: 302\u2013309.","journal-title":"Hum Genet"},{"key":"BFejhg2008159_CR10","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/ng1517","volume":"37","author":"IA Aligianis","year":"2005","unstructured":"Aligianis IA, Johnson CA, Gissen P et al: Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet 2005; 37: 221\u2013223.","journal-title":"Nat Genet"},{"key":"BFejhg2008159_CR11","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1086\/502681","volume":"78","author":"IA Aligianis","year":"2006","unstructured":"Aligianis IA, Morgan NV, Mione M et al: Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet 2006; 78: 702\u2013707.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2008159_CR12","doi-asserted-by":"publisher","first-page":"8696","DOI":"10.1073\/pnas.88.19.8696","volume":"88","author":"LB Giebel","year":"1991","unstructured":"Giebel LB, Spritz RA : Mutation of the KIT (mast\/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA 1991; 88: 8696\u20138699.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2008159_CR13","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1038\/ng1195-257","volume":"11","author":"LE Lim","year":"1995","unstructured":"Lim LE, Duclos F, Broux O et al: Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 1995; 11: 257\u2013265.","journal-title":"Nat Genet"},{"key":"BFejhg2008159_CR14","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1002\/gcc.10028","volume":"33","author":"JW Walter","year":"2002","unstructured":"Walter JW, North PE, Waner M et al: Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. Genes Chromosomes Cancer 2002; 33: 295\u2013303.","journal-title":"Genes Chromosomes Cancer"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008159","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2008159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:51:47Z","timestamp":1684417907000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2008159"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,10]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,1]]}},"alternative-id":["BFejhg2008159"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2008.159","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,10]]}}}