Clinical, genetic, neuroimaging, and severity spectrum of peroxisomal disorders in Iran: a multicenter cohort study

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11 Nov 2026 0 comments

CONCLUSIONS: This study expands the clinical, genetic, and neuroimaging spectrum of peroxisomal disorders in the Middle East and highlights extensive allelic heterogeneity, a high burden of novel variants, many occurring in the homozygous state, and substantial genotype-phenotype variability. These findings support broad genomic testing and integrated neuroimaging assessment in highly consanguineous populations.