A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

This genetics-first study used whole exome sequencing to identify monogenic disorders in patients with anorectal malformations and VACTERL association, challenging the traditional phenotype-based diagnostic approach. The research demonstrates that comprehensive genetic testing can reveal underlying single-gene causes in patients previously classified as having multifactorial VACTERL association.