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A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica

✍ Scribed by Sheila P. Meftah; Helena Kuivaniemi; Gerard Tromp; Abdelhamid Kerkeni; Mohammed Tahar Sfar; Abdelkerim Ayadi; Ananda S. Prasad


Book ID
113828446
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
412 KB
Volume
22
Category
Article
ISSN
0899-9007

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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 a