De novo pathogenic variant in SETX causes a rapidly progressive neurodegenerative disorder of early childhood-onset with severe axonal polyneuropathy.
Acta Neuropathol Commun. 2021 Dec 18;9(1):194. doi: 10.1186/s40478-021-01277-5.
Acta Neuropathol Commun. 2021.
PMID: 34922620
Free PMC article.