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Article

Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.

Journal of child neurology - 1 Dec 2012

Mohebbi Mohammad R, Rush Eric T, Rizzo William B, Banagale Raul C

Abstract excerpt

Zellweger syndrome (cerebrohepatorenal syndrome) is very rare and is the most severe form of peroxisomal biogenesis disorders. These can be caused by mutations in any of the currently known Peroxin genes and typically present in the neonatal period with multiorgan involvement. Patients usually do not survive beyond 1 year of age. This article reports a case of Zellweger syndrome in a male Native American infant...

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Source

Identifiers

PMID: 22378672
DOI: 10.1177/0883073811435918

Genes

PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant.PMID 22378672Read ↗

Child Neurology: Zellweger syndromeSemantic proximity Read ↗

Zellweger Syndrome: A Case Report.Semantic proximity Read ↗

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.Semantic proximity Read ↗

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.Semantic proximity Read ↗

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.Semantic proximity Read ↗

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.Semantic proximity Read ↗

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 update literature reviewSemantic proximity Read ↗

Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.Semantic proximity Read ↗

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Genotype-phenotype correlations in disorders of peroxisome biogenesis.Semantic proximity Read ↗

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