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Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Molecular NeuroscienceAutosomal-recessive Spinocerebellar AtaxiaMendelian DisorderNeurological DisorderExome SequencingGeneticsGenetic DisorderPsychiatric GeneticsHomozygous Syt14 MutationNeurologyNeuroscienceDisease Gene IdentificationMedicineSocial SciencesNeurogenetics