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The karyotype was normal and the screening for mutations in the genes <jats:italic>SHH<\/jats:italic>, <jats:italic>TGIF<\/jats:italic>, <jats:italic>SIX3<\/jats:italic>, <jats:italic>GLI2<\/jats:italic>, <jats:italic>TP73L<\/jats:italic>, and <jats:italic>DHCR7<\/jats:italic> did not show any change. This rare condition was described previously in seven male patients. Clinical and genetic aspects are discussed. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32844","type":"journal-article","created":{"date-parts":[[2009,5,16]],"date-time":"2009-05-16T00:15:46Z","timestamp":1242432946000},"page":"1277-1279","source":"Crossref","is-referenced-by-count":7,"title":["Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of <i>SHH<\/i>, <i>TGIF<\/i>, <i>SIX3<\/i>, <i>GLI2<\/i>, <i>TP73L<\/i>, and <i>DHCR7<\/i> as candidate genes"],"prefix":"10.1002","volume":"149A","author":[{"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucilene Arilho","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salmo","family":"Raskin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia Danielli Pereira","family":"Bertolacini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Leine","family":"Guion\u2010Almeida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,5,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00008"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0390-7"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<423::AID-AJMG12>3.0.CO;2-K"},{"key":"e_1_2_6_5_1","first-page":"27","article-title":"Syndrome identification case report 119. 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