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Article

Novel SLC39A4 mutation in acrodermatitis enteropathica.

Pediatric dermatology - 1 Jan 2000

Coromilas Alexandra, Brandling-Bennett Heather A, Morel Kimberly D, Chung Wendy K

Abstract excerpt

Acrodermatitis enteropathica (AE) is a rare autosomal-recessive disorder characterized by dermatitis, alopecia, diarrhea, and retardation of growth and development. AE maps to 8q24.3 and is associated with mutations in the intestinal zinc transporter ZIP4 encoded by the gene SLC39A4. We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be...

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PMID: 22082465
DOI: 10.1111/j.1525-1470.2011.01637.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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