[CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].

Abstract

OBJECTIVE To investigate the clinical and genetic features of 2 patients with Rubinstein-Taybi syndrome. METHOD Using next generation sequencing (NGS) the CREBBP and EP300 genes of 2 children who were diagnosed as Rubinstein-Taybi syndrome at Peking Union Medical College Hospital. The mutations identified by NGS were verified by PCR were analyzed… (More)

Topics

  • Presentations referencing similar topics