Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
- Solomon, Benjamin,
- Lacbawan, Felicitas
- Mercier, Sandra
- Clegg, Nancy,
- Delgado, Mauricio,
- Rosenbaum, Kenneth
- Dubourg, Christèle
- David, Véronique
- Olney, Ann Haskins
- Wehner, Lars-Erik
- Hehr, Ute
- Bale, Sherri
- Paulussen, Aimee
- Smeets, Hubert,
- Hardisty, Emily
- Tylki-Szymanska, Anna
- Pronicka, Ewa
- Clemens, Michelle
- Mcpherson, Elizabeth
- Hennekam, Raoul,
- Hahn, Jin
- Stashinko, Elaine
- Levey, Eric
- Wieczorek, Dagmar
- Roeder, Elizabeth
- Schell-Apacik, Chayim Can
- Booth, Carol,
- Thomas, Ronald,
- Kenwrick, Sue
- Keaton, Amelia
- Balog, Joan,
- Hadley, Donald
- Zhou, Nan
- Long, Robert
- Velez, Jorge
- Pineda-Alvarez, Daniel
- Odent, Sylvie
- Roessler, Erich
- Muenke, Maximilian
DOIAbstract
International audienceHPE due to ZIC2 mutations is distinct from that due to mutations in other genes. This may shed light on the mechanisms involved in formation of the forebrain and face and will help direct genetic counselling and diagnostic strategies