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Mutations in the responsible gene, <jats:italic>GLI3<\/jats:italic> are also known to be involved in several other disorders. Genotype\/phenotype correlations have led to fine mapping of <jats:italic>GLI3<\/jats:italic> and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31419","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T21:33:37Z","timestamp":1416951217000},"page":"414-418","source":"Crossref","is-referenced-by-count":19,"title":["Pallister\u2013Hall syndrome has gone the way of modern medical genetics"],"prefix":"10.1002","volume":"166","author":[{"given":"Judith G.","family":"Hall","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00370.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03801"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029181"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470893159.ch41"},{"key":"e_1_2_5_6_1","unstructured":"BieseckerLG.2012.Pallister\u2013Hall syndrome. 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