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- Title
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
- Authors
Solomon, Benjamin D; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J; Delgado, Mauricio R; Rosenbaum, Kenneth; Dubourg, Christèle; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J; Hardisty, Emily; Tylki-Szymanska, Anna; Pronicka, Ewa; Clemens, Michelle; McPherson, Elizabeth; Hennekam, Raoul C M; Hahn, Jin; Stashinko, Elaine; Levey, Eric; Wieczorek, Dagmar; Roeder, Elizabeth; Schell-Apacik, Chayim Can; Booth, Carol W; Thomas, Ronald L; Kenwrick, Sue; Cummings, Derek A T; Bous, Sophia M; Keaton, Amelia; Balog, Joan Z; Hadley, Donald; Zhou, Nan; Long, Robert; Vélez, Jorge I; Pineda-Alvarez, Daniel E; Odent, Sylvie; Roessler, Erich; Muenke, Maximilian
- Abstract
Holoprosencephaly (HPE), the most common malformation of the human forebrain, may be due to mutations in genes associated with non-syndromic HPE. Mutations in ZIC2, located on chromosome 13q32, are a common cause of non-syndromic, non-chromosomal HPE.
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 8, p513
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2009.073049