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Article

Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene.

Brain & development - 1 Oct 2013

Matsui Shuji, Funahashi Masuko, Honda Ayako, Shimozawa Nobuyuki

Abstract excerpt

We identified the first patient with infantile Refsum disease (IRD), a milder phenotype of peroxisome biogenesis disorder (PBD) caused by a mutated PEX3, and investigated the clinical, molecular and cellular characterization in this patient. The patient presented psychomotor regression, late-onset leukodystrophy, peripheral neuropathy, hearing impairment, a renal cyst, and renal hypertension and survived until...

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Source

Identifiers

PMID: 23245813
DOI: 10.1016/j.braindev.2012.10.017

Genes

PEX3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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