Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder
Katalin L.M.L. Hetzelt, Frank Kerling, Cornelia Kraus, Christophe Rauch, Christian T. Thiel, Martin Winterholler, André Reis, Christiane Zweier
Topics & Concepts
ParkinsonismNeurodevelopmental disorderPediatricsExome sequencingMissense mutationMedicineLevodopaIntellectual disabilityDyskinesiaDiseasePsychiatryPsychologyInternal medicineParkinson's diseaseGeneticsBiologyAutismMutationGeneGenetics and Neurodevelopmental DisordersCancer-related gene regulationGenomics and Rare Diseases