Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.

Franclo HenningKireshnee NaiduChristopher J RecordNatalia DominikJana VandrovcovaFrans LubbeMarli Dercksennull nullLindsay A WilsonFrancois Van Der WesthuizenMary M ReillyHenry HouldenMichael G HannaJonathan A Carr

Published in: Movement disorders clinical practice (2024)

Keyphrases

deep brain stimulation
parkinson disease
early onset
copy number
gene expression
genome wide