Ruiying Hao

No ORCID on file · 1 paper in corpus

case-report 2025

A de Novo 2q23.1-2q23.3 duplication in a neonate with anemia, thrombocytopenia, and hypospadias: clinical and genomic characterization

Molecular cytogenetics ·doi:10.1186/s13039-025-00741-4

BACKGROUND: Copy number variations (CNVs) of uncertain significance (VUS) are increasingly identified through prenatal and postnatal genetic testing, yet their clinical interpretation remains challenging. We report a neonate with hematologi…