Publication
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek
Orphanet Journal of Rare Diseases, July 2013, Springer Science + Business Media
DOI: 10.1186/1750-1172-8-110