A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

Swati R ChanchaniHongyan XieGurbax SekhonAna M MelikishviliSue Moyer HarasinkHarpreet PallPhilip F Giampietro

Published in: Molecular genetics & genomic medicine (2020)

Our patient's clinical features appear to be influenced by the PLP1 duplication but the clinical effect of other dosage sensitive genes influencing brain development cannot be ruled out.

Keyphrases

case report
genome wide
resting state
white matter
functional connectivity
dna methylation
gene expression
cerebral ischemia
bioinformatics analysis
multiple sclerosis
blood brain barrier
genome wide analysis