Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy.

Dorsa RostampourMohammad Reza ZolfaghariMilad Gholami

Published in: Journal of clinical laboratory analysis (2022)

Because of the clinical heterogeneity and rarity of infantile neuroaxonal dystrophy, whole exome sequencing is critical to confirm the diagnosis and is an excellent tool for INAD management.

Keyphrases

early onset
single cell
copy number
genome wide identification
gene expression