Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt, Claudia

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

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1750-1172

10.1186/1750-1172-8-110 doi


Adolescent
Adult
Child
Child, Preschool
Esophageal Atresia--genetics
Female
Genetic Association Studies
Humans
Intellectual Disability--genetics
Male
Mandibulofacial Dysostosis--genetics
Mutation
Peptide Elongation Factors--genetics
Phenotype
Ribonucleoprotein, U5 Small Nuclear
Sequence Analysis, DNA
Young Adult