Chiari Malformation Type I in a patient with a novel NKX2-1 mutation

We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1-related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research