High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Yoo-Mi KimYun-Jin LeeJae Hong ParkHyoung-Doo LeeChong Kun CheonSu-Young KimJae-Yeon HwangJa-Hyun JangHan-Wook Yoo

Published in: Clinical genetics (2017)

Targeted exome sequencing is a powerful method for diagnosing syndromic growth disorders. It enables us to understand molecular pathophysiology and investigate new treatments for growth disorders.

Keyphrases

intellectual disability
single cell
cancer therapy
copy number
gene expression
dna methylation
drug delivery
single molecule