Voigt, Claudia <br/><br/>
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.  [electronic resource] 

 -  Orphanet journal of rare diseases  Jul 2013 
 - 110 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1750-1172 
<br/><br/><label>Standard No.: </label>10.1186/1750-1172-8-110  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>Esophageal Atresia--genetics<br/>Female<br/>Genetic Association Studies<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Mandibulofacial Dysostosis--genetics<br/>Mutation<br/>Peptide Elongation Factors--genetics<br/>Phenotype<br/>Ribonucleoprotein, U5 Small Nuclear<br/>Sequence Analysis, DNA<br/>Young Adult