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Article

Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.

Pediatric dermatology - 1 Jan 2000

Garza-Rodríguez Verónica, de la Fuente-García Alberto, Liy-Wong Carmen, Küry Sébastien, Schmitt Sébastien, Jamall Ijaz S, Ocampo-Candiani Jorge

Abstract excerpt

Acrodermatitis enteropathica (AE) is a rare disease that results from a defective gene, SLC39A4, and is characterized by dermatitis, alopecia, and diarrhea. We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC39A4. This case demonstrates that not all AE mutations alter zinc transporters in the...

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PMID: 25780817
DOI: 10.1111/pde.12555

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

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