Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant.

Davide NorataPaolo AlongeLucia GrilloFrancesco CalìMaurizio SturnioAntonino LupicaVanessa CostaFilippo BrighinaVincenzo Di Stefano

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

Keyphrases

copy number
intellectual disability
early onset
genome wide identification
muscular dystrophy
wound healing
autism spectrum disorder
dna methylation
transcription factor