Clinical and genetic spectrum of dual rare genetic diseases revealed by whole-exome sequencing in 14 pediatric patients.

Abstract excerpt

BACKGROUND: Dual molecular diagnoses, defined as the coexistence of pathogenic variants in two distinct disease-causing genes, challenge the traditional single-gene model of Mendelian inheritance. With the advent of whole-exome sequencing (WES), such complex genotypes are increasingly recognized. OBJECTIVE: To investigate the clinical and genetic spectrum of dual rare genetic diseases in pediatric patients and to...

Topics

• Humans
• Exome Sequencing
• Child
• Female
• Rare Diseases
• Male
• Child, Preschool