TY  - GEN
AU  - Voigt,Claudia
AU  - Mégarbané,André
AU  - Neveling,Kornelia
AU  - Czeschik,Johanna Christina
AU  - Albrecht,Beate
AU  - Callewaert,Bert
AU  - von Deimling,Florian
AU  - Hehr,Andreas
AU  - Falkenberg Smeland,Marie
AU  - König,Rainer
AU  - Kuechler,Alma
AU  - Marcelis,Carlo
AU  - Puiu,Maria
AU  - Reardon,Willie
AU  - Riise Stensland,Hilde Monica Frostad
AU  - Schweiger,Bernd
AU  - Steehouwer,Marloes
AU  - Teller,Christopher
AU  - Martin,Marcel
AU  - Rahmann,Sven
AU  - Hehr,Ute
AU  - Brunner,Han G
AU  - Lüdecke,Hermann-Josef
AU  - Wieczorek,Dagmar
TI  - Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
SN  - 1750-1172
PY  - 2014///0102
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Esophageal Atresia
KW  - genetics
KW  - Female
KW  - Genetic Association Studies
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mandibulofacial Dysostosis
KW  - Mutation
KW  - Peptide Elongation Factors
KW  - Phenotype
KW  - Ribonucleoprotein, U5 Small Nuclear
KW  - Sequence Analysis, DNA
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1186/1750-1172-8-110
ER  -