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We refined the critical interval to the &lt;\u20091\u2010Mb region between <jats:italic>D17S2250<\/jats:italic> and <jats:italic>D17S2253<\/jats:italic> in 15 affected individuals, all of whom shared a common disease haplotype. Furthermore, we report here the identification of a 52\u2010kb deletion located within the interval and encompassing <jats:italic>D17S1789<\/jats:italic> that is 100% concordant with the disorder. Although the deletion itself does not appear to disrupt the coding region of any known or novel gene(s), the closest flanking genes are <jats:italic>MEOX1<\/jats:italic> on the proximal side, and <jats:italic>SOST<\/jats:italic> on the distal side of the deletion. <jats:italic>MEOX1<\/jats:italic> is known to be important for the development of the axial skeleton, whereas the <jats:italic>SOST<\/jats:italic> gene is the determinant of sclerosteosis, a disorder that shares many features with van Buchem disease, thus raising the possibility that van Buchem disease results from dysregulation of the expression of one or both of these genes. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10401","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T12:27:22Z","timestamp":1033907242000},"page":"144-152","source":"Crossref","is-referenced-by-count":261,"title":["A 52\u2010kb deletion in the <i>SOST\u2010MEOX1<\/i> intergenic region on 17q12\u2010q21 is associated with van Buchem disease in the Dutch population"],"prefix":"10.1002","volume":"110","author":[{"given":"Karen","family":"Staehling\u2010Hampton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sean","family":"Proll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan W.","family":"Paeper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Charmley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Analisa","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica 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