Genetic & Genomic MedicinePLoS GeneticsPeer-reviewed
Size matters: large copy number losses reveal novel Hirschsprung disease genes
Laura E. Kuil, Katherine C. MacKenzie, Clara Sze-Man Tang…·Erwin Brosens
The paper identifies large copy number losses as contributors to Hirschsprung disease, specifically in HSCR-AAM patients, and validates four genes involved in enteric nervous system development.