De novo mutations in PLXND1 and REV3L cause Möbius syndrome
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
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Author / Creator
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. and van Bokhoven, Hans
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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...
Alternative Titles
Full title
De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4648025
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4648025
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms8199
