Article
De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Nature communications - 12 Jun 2015
Tomas-Roca Laura, Tsaalbi-Shtylik Anastasia, Jansen Jacob G, Singh Manvendra K, Epstein Jonathan A, Altunoglu Umut, Verzijl Harriette, Soria Laura, van Beusekom Ellen, Roscioli Tony, Iqbal Zafar, Gilissen Christian, Hoischen Alexander, de Brouwer Arjan P M, Erasmus Corrie, Schubert Dirk, Brunner Han, Pérez Aytés Antonio, Marin Faustino, Aroca Pilar, Kayserili Hülya, Carta Arturo, de Wind Niels, Padberg George W, van Bokhoven Hans
Abstract excerpt
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,...
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