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Author

Chang-Hong Ding

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Review Open access Sep 2026

Pragmatic Phenotype–Electrophysiology–Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single‐Center Study in China

ABSTRACT Aims To characterize the clinical, electrophysiological, and genetic spectrum of pediatric CMS and evaluate genotype‐informed outcomes using an integrated phenotype–electrophysiology–genomics approach. Methods We retrospectively reviewed 36 pediatric CMS patients evaluated at a single center between 2015 and 2...

Li-Ya Cui, Kai-Yue Ma, Xiao-Na Fu et al. · 0 citations
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. · 0 citations

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