Publication | Closed Access

Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

Rare DiseasesMendelian DisorderNeurological DisorderMedicineGenetic DisorderDistinct Neurological FeaturesSchinzel–giedion SyndromePathologyNeurologyNeuropathologyNeuromuscular PathologyNeurogeneticsRecurrent Setbp1 Mutation