Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
Benjamin D Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy J Clegg, Mauricio R Delgado, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Lars-Erik Wehner, Ute Hehr, Sherri Bale, Aimee Paulussen, Hubert J Smeets, Emily Hardisty, Anna Tylki-Szymanska, Ewa Pronicka, Michelle Clemens, Elizabeth McPherson, Raoul C M Hennekam, Jin Hahn, Elaine Stashinko, Eric Levey, Dagmar Wieczorek, Elizabeth Roeder, Chayim Can Schell-Apacik, Carol W Booth, Ronald L Thomas, Sue Kenwrick, Derek A T Cummings, Sophia M Bous, Amelia Keaton, Joan Z Balog, Donald Hadley, Nan Zhou, Robert Long, Jorge I Vélez, Daniel E Pineda-Alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke
Journal of Medical Genetics Aug 2010, 47 (8) 513-524; DOI: 10.1136/jmg.2009.073049