Genetic & Genomic MedicinemedRxivPreprint
Expanding clinical and variant spectrum of CBX1-related syndrome: Report of three novel cases
Graciela Carrollo, Shuhei Fujino, Harrison Higgs…·Kosuke Izumi
This paper reports three novel de novo CBX1 variants in patients with developmental delay and describes genotype-phenotype correlations.
DOI 10.64898/2026.09.28.26363820