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September 17, 2026GenesOpen Access

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

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Authors

MJMałgorzata Janeczko-CzarneckaMGMaciej GrędaDCDorota Cichosz

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Janeczko-Czarnecka et al. (2026) studied this question.

synapsesocial.com/papers/6aabb8245f706d05830e7c87https://doi.org/10.3390/genes17091132
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