Title: Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
Authors: Natalia Krawczyńska, Alina Kużniacka, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, Bartosz Wasąg
Journal: Frontiers in Genetics
Publication type: article
DOI: 10.3389/fgene.2018.00255