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Flavia Palombo

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Case report Open access Aug 2026

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder

This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.

Irene Ambrosetti, F. Palombo, Diego D'Angeli et al. · 0 citations

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