De novo mutations in PLXND1 and REV3L cause Möbius syndrome

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

10.1038/ncomms8199

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Bibliographic Details
Main Authors:	Tomas-Roca, L, Tsaalbi-Shtylik, A, Jansen, J.G, Singh, M.K, Epstein, J.A, Altunoglu, U, Verzijl, H, Soria, L, Van Beusekom, E, Roscioli, T, Iqbal, Z, Gilissen, C, Hoischen, A, De Brouwer, A.P.M, Erasmus, C, Schubert, D, Brunner, H, Pérez Aytés, A, Marin, F, Aroca, P, Kayserili, H, Carta, A, De Wind, N, Padberg, G.W, Van Bokhoven, H
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	Nature Publishing Group 2020
Subjects:	plexin PLXND1 protein protein REV3L protein semaphorin unclassified drug DNA binding protein DNA directed DNA polymerase nerve cell adhesion molecule PLXND1 protein, human REV3L protein, human DNA etiology mutation neurology rodent amino acid substitution animal cell animal tissue anterior commissure Article brain development cell migration cell proliferation cell survival cerebellum clinical article controlled study corpus callosum corpus striatum dendritic cell DNA damage DNA synthesis embryo enzyme active site exome exon female forebrain frameshift mutation gene mutation heterozygote human hypoplasia in situ hybridization loss of function mutation male meiotic recombination mesencephalon missense mutation Moebius syndrome motoneuron motoneuron nucleus mouse newborn nonhuman nonsense mutation phenotype protein phosphorylation reverse transcription polymerase chain reaction rhombencephalon spinal ganglion animal genetics mutant mouse strain Mus Animals Cell Adhesion Molecules, Neuronal DNA Damage DNA-Binding Proteins DNA-Directed DNA Polymerase Exome Heterozygote Humans Mice Mice, Mutant Strains Mobius Syndrome Mutation
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/180463
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Institution:	National University of Singapore

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https://scholarbank.nus.edu.sg/handle/10635/180463