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Clinical and genetic spectrum of RHOBTB2‐related disorders: A study integrating Chinese and international cohorts for genotype–phenotype correlations and clinical subtyping

Ming Liu Xiao-Juan Tian Yu-Pin Ma Chun-Hong Chen Lifang Dai Chang-Hong Ding
Jul 2026 · Epilepsia · Vol 67, pp. 4886 - 4906 · 0 citations · 31 references
Medicine

Abstract

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.

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