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We report on the clinical and molecular findings of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic <jats:italic>ROR2<\/jats:italic> deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32530","type":"journal-article","created":{"date-parts":[[2008,10,1]],"date-time":"2008-10-01T17:58:19Z","timestamp":1222883899000},"page":"2804-2809","source":"Crossref","is-referenced-by-count":16,"title":["Robinow syndrome: Phenotypic variability in a family with a novel intragenic <i>ROR2<\/i> mutation"],"prefix":"10.1002","volume":"146A","author":[{"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"del Gaudio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hartmut","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henri","family":"Justino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claus\u2010Eric","family":"Ott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0409-0"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi259"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1995.83.4.0575"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2737"},{"key":"e_1_2_6_7_1","first-page":"229","article-title":"Cleidocranial dysostosis and syringomyelia. 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