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Author

Congshan Jiang

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Case report Open access Jul 2026

A Chinese infant with CACNA1C p.C1021R variant expands clinical phenotype of CACNA1C-related disorder

By redefining CRD with TS features as a profoundly multisystem disorder, this expanded understanding facilitates improved prognostication, genetic counseling, and targeted therapeutic interventions, aiming to transform management from unpredictable complications into predictable, preventable components, ultimately enha...

Congshan Jiang, Ya-Fei Zhou, Si-Yu Zhang et al. · 0 citations

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