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Here, we report the results of a genome\u2010wide scan and fine mapping of the BCS locus in Hutterite families. By linkage and haplotype analysis the BCS locus was mapped to a 3.5 cM segment (1.9 Mbp) in chromosome region 12p13.3 bounded by<jats:italic>F8VWF<\/jats:italic>and<jats:italic>D12S397<\/jats:italic>. When genealogical relationships among the families were taken into account in the linkage analysis, the evidence for linkage was stronger and the number of potentially linked regions was reduced to one. Under the assumption that all the Hutterite patients were identical by descent for a disease\u2010causing mutation, haplotype analysis was used to infer likely historical recombinants and thereby narrow the candidate region to a chromosomal segment shared in common by all the affected children. This study also demonstrates that BCS and cerebro\u2010oculo\u2010facial\u2010skeletal syndrome (COFS) are genetically distinct. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30420","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T01:17:09Z","timestamp":1102036629000},"page":"136-143","source":"Crossref","is-referenced-by-count":13,"title":["A locus for Bowen\u2013Conradi syndrome maps to chromosome region 12p13.3"],"prefix":"10.1002","volume":"132A","author":[{"given":"Ryan E.","family":"Lamont","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JC.","family":"Loredo\u2010Osti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole M.","family":"Roslin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Mauthe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail","family":"Coghlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Nylen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Frappier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. 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