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
Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates.
Kawai H et al.
Brain & Development, 2023
The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.
Kochaj RM et al.
Cells, 2022
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
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Bjørgo K et al.
Molecular Genetics and Metabolism, 2017
Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.
Matsui S et al.
Brain & Development, 2013
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