Article
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
Human mutation - 1 Jun 2009
Schmitt Sébastien, Küry Sébastien, Giraud Mathilde, Dréno Brigitte, Kharfi Monia, Bézieau Stéphane
Abstract excerpt
Acrodermatitis enteropathica (AE) is a very rare inherited recessive disease caused by severe zinc deficiency. It typically occurs in early infancy and is characterized by periorificial and acral dermatitis, alopecia, and diarrhea. In 2002, both we and others identified the AE SLC39A4 gene located at 8q24.3, and described the first causative mutations for the disease. The SLC39A4 gene encodes a zinc-specific...
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