Charcot-Marie-Tooth disease type 2S: identical novel missense mutation of IGHMBP2 gene in two unrelated families.

Soumya V ChandrasekharanSruthi S NairAparna GanapathyAshraf U MannanSoumya Sundaram

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

Keyphrases

intellectual disability
copy number
genome wide
cord blood
dna methylation
gene expression
autism spectrum disorder
genome wide analysis