Case report
Open access
Aug 2026
Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat
Findings further support the role of haploinsufficient genes within the distal 1q43q44 region, particularly AKT3, HNRNPU, and ZBTB18, to the core neurodevelopmental phenotype and highlight the value of high‐resolution genomic analysis for patient characterization.
Ma. Guadalupe Domínguez-Quezada, H. Rivera, L. E. Figuera et al.
· Journal of clinical laborato... · 0 citations