Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review
Kishnani S, Riley K, Mikati M, Jiang Y. Phenotypic Variability of an Inherited Pathogenic Variant in CIC Gene: A New Case Report in Two-Generation Family and Literature Review. Journal Of Pediatric Neurology 2020, 19: 193-201. DOI: 10.1055/s-0040-1714070.Peer-Reviewed Original ResearchCIC geneFunction variantsCancers of brainInherited pathogenic variantPathogenic mutationsNeurodevelopmental disordersNew case report