Impact of pathogenic variants of the Ras–mitogen-activated protein kinase pathway on major white matter tracts in the human brain

Abstract excerpt

Abstract Noonan syndrome and neurofibromatosis type 1 are genetic conditions linked to pathogenic variants in genes of the Ras–mitogen-activated protein kinase signalling pathway. Both conditions hyper-activate signalling of the Ras–mitogen-activated protein kinase pathway and exhibit a high prevalence of neuropsychiatric disorders. Further, animal models of Noonan syndrome and neurofibromatosis type 1 and human...

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