Article
Recognisable Neuroradiological Findings in Five Neurogenetic Disorders.
Clinical genetics - 1 Jan 2025
Rosenblum Jessica, Meuwissen Marije, Jansen Anna C, Oegema Renske, Reddy Nihaal, Mankad Kshitij, Sudhakar Sniya
Abstract excerpt
The rate of discovery and increased understanding of genetic causes for neurodevelopmental disorders has peaked over the past decade. It is well recognised that some genes show marked variability in neuroradiological phenotypes, and inversely, some radiological phenotypes are associated with several different genetic conditions. However, some readily recognisable brain magnetic resonance imaging (MRI) patterns,...
Topics
- Humans
- Brain
- Guanine Nucleotide Exchange Factors
- Magnetic Resonance Imaging
- Neurodevelopmental Disorders
- Neuroimaging
- Phenotype