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Author

Xiao-Tun Ren

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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

Pediatric CMS shows marked genetic heterogeneity and frequent VUS‐related uncertainty and Integrating phenotype, electrophysiology, and genomics supports diagnosis and mechanism‐guided therapy.

Li-Ya Cui, Kai-Yue Ma, Xiao-Na Fu et al. · 0 citations
Open access Aug 2026

A Genotype–Phenotype Analysis of Four Chinese Children Carrying Distinct Pathogenic Variants in the CTCF Gene

This study expands the spectrum of pathogenic CTCF variants in the Chinese population and underscores the marked phenotypic heterogeneity of CTCF-related disorders, ranging from benign developmental outcomes with complete catch-up to severe neonatal multisystem involvement.

Juan Du, Mu-Han Li, Ai-Min Liang et al. · 0 citations

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