Skip to Main content Skip to Navigation
Journal articles

Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

Benjamin Solomon 1 Felicitas Lacbawan 1, 2 Sandra Mercier 3, 4 Nancy Clegg 5 Mauricio Delgado 5 Kenneth Rosenbaum 6 Christèle Dubourg 3 Véronique David 3 Ann Haskins Olney 7 Lars-Erik Wehner 8 Ute Hehr 8 Sherri Bale 9 Aimee Paulussen 10 Hubert Smeets 10 Emily Hardisty 11 Anna Tylki-Szymanska 12 Ewa Pronicka 12 Michelle Clemens 13 Elizabeth Mcpherson 14 Raoul Hennekam 15 Jin Hahn 16 Elaine Stashinko 17 Eric Levey 17 Dagmar Wieczorek 18 Elizabeth Roeder 19 Chayim Can Schell-Apacik 20, 21 Carol Booth 22 Ronald Thomas 23 Sue Kenwrick 24 Amelia Keaton 1 Joan Balog 1 Donald Hadley 1 Nan Zhou 1 Robert Long 1 Jorge Velez 1 Daniel Pineda-Alvarez 1 Sylvie Odent 3, 25 Erich Roessler 1 Maximilian Muenke 1, *
Abstract : HPE 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.
Document type :
Journal articles
Complete list of metadatas

https://www.hal.inserm.fr/inserm-00439659
Contributor : Hervé de Villemeur <>
Submitted on : Wednesday, December 9, 2009 - 4:41:28 PM
Last modification on : Thursday, October 8, 2020 - 3:06:32 AM
Long-term archiving on: : Thursday, June 17, 2010 - 11:26:32 PM

Identifiers

Citation

Benjamin Solomon, Felicitas Lacbawan, Sandra Mercier, Nancy Clegg, Mauricio Delgado, et al.. Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.. Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩. ⟨inserm-00439659⟩

Share

Metrics

Record views

742

Files downloads

1072