From
Dr. Marc Levitt
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
pubmed.ncbi.nlm.nih.gov shows its articles on its own site.
Read the article on pubmed.ncbi.nlm.nih.gov ↗Article · Jul 2026 · 1 min read
In brief
In brief
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.
Written by the GCMD Library team from the article.
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of the following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenoty …
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