An efficient genetic test flow for multiple congenital anomalies and intellectual disability.

Takayuki YokoiYumi EnomotoYoshinori TsurusakiNoriaki HaradaToshiyuki SaitoJun-Ichi NagaiTakuya NarutoKenji Kurosawa

Published in: Pediatrics international : official journal of the Japan Pediatric Society (2021)

Clinical exome sequencing should be implemented earlier as a genetic test for undiagnosed patients with multiple congenital anomalies and/or intellectual disabilities. Our results can be used to establish inspection methods in clinical facilities.

Keyphrases

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