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Article

Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.

American journal of human genetics - 1 Aug 2009

Klar Joakim, Schweiger Martina, Zimmerman Robert, Zechner Rudolf, Li Hao, Törmä Hans, Vahlquist Anders, Bouadjar Bakar, Dahl Niklas, Fischer Judith

Abstract excerpt

Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in indi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19631310
DOI: 10.1016/j.ajhg.2009.06.021
PMCID: PMC2725242

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19631310-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome.PMID 19631310Read ↗

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