Jul 2026
Clinical and genetic spectrum of RHOBTB2‐related disorders: A study integrating Chinese and international cohorts for genotype–phenotype correlations and clinical subtyping
This study was undertaken to characterize the clinical and genetic spectrum of RHOBTB2‐related disorders (RHOBTB2‐RDs) in a Chinese population, explore genotype–phenotype correlations, and develop a refined clinical framework to improve diagnosis and management.
Ming Liu, Xiao-Juan Tian, Yu-Pin Ma et al.
· Epilepsia · 0 citations