Dataset Information
Radboud University medical center
Ontology highlight
ABSTRACT:
PROVIDER: EGAO00000000441 | EGA |
REPOSITORIES: EGA
Publications
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Nature communications 20150612
Möbius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Möbius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated path ...[more]
