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
The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.
Kochaj RM et al.
Cells, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
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
Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.
Maxit C et al.
Jimd Reports, 2017
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