De novo mutations in PLXND1 and REV3L cause Möbius syndrome

  title={De novo mutations in PLXND1 and REV3L cause M{\"o}bius syndrome},
  author={Laura Tomas-Roca and Anastasia Tsaalbi-Shtylik and Jacob G. Jansen and Manvendra Kumar Singh and Jonathan A. Epstein and Umut Altunoglu and Harriette Verzijl and Laura Soria and Ellen van Beusekom and Tony Roscioli and Zafar Iqbal and Christian Gilissen and Alexander Hoischen and Arjan de Brouwer and Corrie E. Erasmus and Dirk Schubert and Han G. Brunner and Antonio P{\'e}rez Ayt{\'e}s and Faustino Mar{\'i}n and Pilar Aroca and H{\"u}lya Kayserili and Arturo Carta and Niels de Wind and George W. Padberg and Hans van Bokhoven},
  booktitle={Nature communications},
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… CONTINUE READING
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Moebius and related syndromes

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