BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family.

Naomi Pode ShakkedOrtal BarelBen Pode-ShakkedAviva EliyahuAmihood SingerOmri NayshoolNitzan KolAnnick Raas-RothschildElon PrasMordechai Shohat

Published in: Molecular genetics & genomic medicine (2019)

The reported family contributes to the current knowledge regarding this unique and newly recognized genetic disorder, and further implicates the role of BRPF1 in human brain development.

Keyphrases

intellectual disability
autism spectrum disorder
healthcare
high throughput
genome wide
dna methylation
real time pcr
gene expression