A 40kb duplication upstream of GREM1 results in upregulation of GREM1 and causes hereditary mixed polyposis syndrome, a rare monogenic disorder affected the gastrointestinal tract. Identifying such duplications and establishing causality for a monogenic disease is difficult. Jaeger and colleagues demonstrate how such a task can be accomplished.
Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany
