Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
Felipe Franco da Graça, Thiago Mazzo Peluzzo, Luciana Cardoso Bonadia, Alberto Rolim Muro Martinez, Fabrício Diniz de Lima, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini, Maria Thereza Drummond Gama, Fulya Akçimen, Patrick A. Dion, Guy A. Rouleau, Wilson Marques, Marcondes C. França
Topics & Concepts
AtaxiaExome sequencingMedicineCohortGenetic testingCerebellar ataxiaMedical geneticsPeripheral neuropathyPediatricsPathologyGeneticsInternal medicineBiologyPsychiatryMutationGeneEndocrinologyDiabetes mellitusGenetic Neurodegenerative DiseasesMitochondrial Function and PathologyGenomics and Rare Diseases