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- Title
Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
- Authors
Nasser, Entessar; Mangold, Elisabeth; Tradowsky, Daniela C; Fier, Heide; Becker, Jessica; Boehmer, Anne C; Herberz, Ruth; Fricker, Nadine; Barth, Sandra; Wahle, Philipp; Nowak, Stefanie; Reutter, Heiko; Reich, Rudolf H; Lauster, Carola; Braumann, Bert; Kreusch, Thomas; Hemprich, Alexander; Pötzsch, Bernd; Hoffmann, Per; Kramer, Franz-Josef; Knapp, Michael; Lange, Christoph; Nöthen, Markus M; Ludwig, Kerstin U
- Abstract
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital anomalies, and has a multifactorial etiology involving both environmental and genetic factors. Recent genome-wide association studies (GWAS) identified strong association between a locus on chromosome 10q25.3 and NSCL/P in European samples. One gene at 10q25.3, the ventral anterior homeobox 1 (VAX1) gene, is considered a strong candidate gene for craniofacial malformations. The purpose of the present study was to provide further evidence that VAX1 is the causal gene at the 10q25.3 locus through identification of an excess of rare mutations in patients with NSCL/P.
- Publication
Birth defects research. Part A, Clinical and molecular teratology, 2012, Vol 94, Issue 11, p925
- ISSN
1542-0760
- Publication type
Journal Article
- DOI
10.1002/bdra.23078