Associated Papers
Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R et al.
Journal of Clinical Medicine, 2020
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S et al.
Brain : a Journal of Neurology, 2019
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Smigiel R et al.
Human Molecular Genetics, 2018
Select a paper to view details