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Two compound heterozygous novel SLC39A4 mutations in generalized eczematoid acrodermatitis enteropathica Volume 22, numéro 6, November-December 2012

Auteurs
Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, 12 Jiang-Wang-Miao street, Nanjing, China

ejd.2012.1848 Auteur(s) : Cheng-Rang Li, Su-Ying Feng, Qiang Wang, Xiu-Lian Xu, Yu-Wei Pan, Yan Wang, Qi Li, Baoxi Wang wangbx@ncstdlc.org Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, 12 Jiang-Wang-Miao street, Nanjing, China Acrodermatitis enteropathica (AE; OMIM 201100) is a rare genodermatosis characterized by symmetrical acral and periorificial dermatitis, diarrhoea and alopecia, due to defective intestinal zinc absorption. In 2002, the SLC39A4 [...]