Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.
Xinyu YueMeiping ChenXiaoan KeHongbo YangFengying GongLinjie WangLian DuanHui PanHui-Juan ZhuPublished in: Molecular genetics & genomic medicine (2024)
This study reported the third case of CdLS type 4 in China caused by a RAD21 gene variant, enriching the genetic mutational spectrum.