A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.

Published in: Clinical genetics (2022)

(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.

Keyphrases

zika virus
intellectual disability
single cell
case report
rna seq
copy number
gene expression
autism spectrum disorder