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A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Mendelian DisorderGenetic DisorderMedicineGeneticsPathologyDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationNeuromuscular PathologyLarge DeletionOpsoclonus-myoclonus Ataxia-like SyndromeNeurogeneticsKctd7 Gene