Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis
Mol Genet Genomic Med. 2025 Jun;13(6):e70115. doi: 10.1002/mgg3.70115. ABSTRACT BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by congenital multiple anomalies, …