Associated Papers
Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review.
Su J et al.
Bmc Pediatrics, 2026
Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.
Lee W et al.
Molecular Genetics and Metabolism Reports, 2020
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Bjørgo K et al.
Molecular Genetics and Metabolism, 2017
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