Publication Date:
2015-06-14
Description:
Article lt has been debated for decades if there is a genetic aetiology underlying Möbius syndrome, a neurological disorder characterized by facial paralysis. Here Tomas-Roca et al . use exome sequencing and identify de novo mutations in PLXND1 and REV3L , representing converging pathways in hindbrain development. Nature Communications doi: 10.1038/ncomms8199 Authors: Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G. Jansen, Manvendra K. Singh, Jonathan A. Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P. M. de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner, Antonio Pérez Aytés, Faustino Marin, Pilar Aroca, Hülya Kayserili, Arturo Carta, Niels de Wind, George W. Padberg, Hans van Bokhoven
Electronic ISSN:
2041-1723
Topics:
Biology
,
Chemistry and Pharmacology
,
Natural Sciences in General
,
Physics
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