Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

ConclusionOur study shows that it is important to perform clinical genetic investigations, including CNV analysis, in patients with congenital gastrointestinal malformations since this leads to improved information to families as well as an increased understanding of the pathogenesis.

Source: Molecular Genetics & Genomic Medicine - December 13, 2019 Category: Genetics & Stem Cells Authors: Johanna Winberg, Peter Gustavsson, Ellika Sahlin, Magnus Larsson, Henrik Ehr én, Magdalena Fossum, Tomas Wester, Ann Nordgren, Agneta Nordenskjöld Tags: ORIGINAL ARTICLE Source Type: research