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A postzygotic <i>NRAS</i> mutation in a patient with Schimmelpenning syndrome
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2015
Year
NeuropsychologyCorticobasal DegenerationGeneticsPathologyMolecular GeneticsBrain LesionSocial SciencesMendelian DisorderNeurologyBrain PathologyNeuropathologyCognitive NeuroscienceNeurogeneticsPsychiatryBrain StructureNeuroimagingFigure S2Panel SequencingCranial MriGenetic DisorderNeuroanatomyNeuroscienceSchimmelpenning SyndromeMedicine
Additional supporting information may be found in the online version of this article at the publisher's web-site. Figure S1: Cranial MRI at the age of 6 months A: T2-weighted coronal image showed a large right temporal lobe with a polymicrogyric cortex suggesting hemimegalencephaly. Figure S2: Sanger sequencing analysis to confirm the mutation detected by panel sequencing. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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