Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing

• Hlavní autoři: Jinbo Xu (Autor), Wei Su (Autor), Yishan Wang (Autor), Yuanyuan Luo (Autor), Fuling Ye (Autor), Yanhong Xu (Autor), Lulu Chen (Autor), Hong Li (Autor)
• Médium: Kniha
• Vydáno: BMC, 2024-11-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Abstract Introduction Developmental delay (DD) and intellectual disability (ID) are key manifestations of neurodevelopmental disorders (NDDs), characterized by considerable clinical and genetic variability, which complicates genetic diagnosis. Whole exome sequencing (WES) has become an effective met...