Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. (2018)
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1093/hmg/ddy277
PubMed Identifier: 30124836
Publication URI: http://europepmc.org/abstract/MED/30124836
Type: Journal Article/Review
Volume: 27
Parent Publication: Human molecular genetics
Issue: 21
ISSN: 0964-6906