De novo mutations in PLXND1 and REV3L cause Möbius syndrome

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Nat Commun
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Pub. Group 2015
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4648025/
https://ncbi.nlm.nih.gov/pubmed/26068067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms8199
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg