Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review
BMC Med Genomics. 2025 May 19;18(1):90. doi: 10.1186/s12920-025-02155-y. ABSTRACT BACKGROUND: Chromosome 17p13.3 is a region of genomic instability associated with different neurodevelopmental diseases. The malformation …