A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report.

Quentin ThomasAntonio VitobelloAgnès FromontChristophe PhilippeChristel Thauvin-Robinet

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)

Keyphrases

case report
single cell
early onset
copy number
dna methylation
genome wide