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Article

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.

Pediatric research - 1 Mar 2004

Gootjes Jeannette, Elpeleg Orly, Eyskens François, Mandel Hanna, Mitanchez Delphine, Shimozawa Noboyuki, Suzuki Yasuyuki, Waterham Hans R, Wanders Ronald J A

Abstract excerpt

The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in at least 11 distinct genes. The prototype of this group of disorders is Zellweger syndrome (ZS) with neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) as milder variants. Common to PBDs are liver disease, variable neurodevelopmental delay, retinopathy and perceptive...

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Source

Identifiers

PMID: 14630978
DOI: 10.1203/01.PDR.0000106862.83469.8D

Genes

PEX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.PMID 14630978Read ↗

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.Semantic proximity Read ↗

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Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.Semantic proximity Read ↗

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Semantic proximity Read ↗

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Semantic proximity Read ↗

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.Semantic proximity Read ↗

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Semantic proximity Read ↗

Identification of a novel PEX14 mutation in Zellweger syndrome.Semantic proximity Read ↗

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Semantic proximity Read ↗

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Genetics and molecular basis of human peroxisome biogenesis disorders.Semantic proximity Read ↗

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