A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization
Mol Cytogenet. 2025 Dec 4. doi: 10.1186/s13039-025-00741-4. Online ahead of print. ABSTRACT BACKGROUND: Copy number variations (CNVs) of uncertain significance (VUS) are increasingly identified through …