Whole-exome sequencing reveals five unreported EP300 gene novel variants causing Rubinstein-Taybi syndrome type 2 in Chinese children

This study reports five novel pathogenic <i>EP300</i> variants, expanding the mutational repertoire of RSTS2 and providing an important basis for clinical diagnosis and genetic counseling.本研究报道了5种全新的致病性EP300基因变异，扩充了鲁宾斯坦-泰比综合征2型（Rubinstein-Taybi Syndrome 2，RSTS2）的突变谱，为临床诊断与遗传咨询提供了重要依据。