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Article

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.

PloS one - 1 Jan 2012

Barbier Mathieu, Sabbagh Audrey, Kasper Edwige, Asheuer Muriel, Ahouansou Ornella, Pribill Ingrid, Forss-Petter Sonja, Vidaud Michel, Berger Johannes, Aubourg Patrick

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is characterized by marked phenotypic variation ranging from adrenomyeloneuropathy (AMN) to childhood cerebral ALD (CCALD). X-ALD is caused by mutations in the ABCD1 gene, but no genotype-phenotype correlation has been established so far and modifier gene variants are suspected to modulate phenotypes. Specific classes of lipids, enriched in very long-chain fatty acids that...

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Identifiers

PMID: 22253809
DOI: 10.1371/journal.pone.0029872
PMCID: PMC3257241

Genes

AMN
ABCD1

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.

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