Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature
Stefano Pisano, Marta Melis, Michela Figorilli, Lorenzo Polizzi, Lorenzo Rocchi, Sabrina Giglio, Giovanni Defazio, Antonella Muroni
Topics & Concepts
EtiologyDiseaseDystoniaAtaxiaPediatricsMedicineMutationGeneBioinformaticsPsychologyBiologyGeneticsNeuroscienceInternal medicineinterferon and immune responsesImmunodeficiency and Autoimmune DisordersGenomics and Rare Diseases