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One novel homozygous mutation of SLC39A4 gene in a Chinese patient with acrodermatitis enteropathica

✍ Scribed by Cheng-Rang Li; Shu-Mei Yan; Dan-Bei Shen; Qi Li; Jin-Ping Shao; Cheng-Yi Xue; Yuan-Hua Cao


Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
358 KB
Volume
302
Category
Article
ISSN
0340-3696

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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

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