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Author

Maciej Gręda

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Case report Open access Sep 2026

Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4–7 Copy-Number Gain: A Case Report

These related cases provide a descriptive account of a juvenile PLAN-like phenotype, without independently attributing the phenotype to p.Arg645Gln, establishing variant pathogenicity or a specific genotype–phenotype correlation.

Małgorzata Janeczko-Czarnecka, Maciej Gręda, Dorota Cichosz et al. · 0 citations

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