Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

ABSTRACT Introduction Congenital ichthyosiform erythroderma (CIE ) is characterized by fine, whitish scales on a background of erythematous skin over the whole body; it is reportedly caused by mutations in ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, PNPLA1, and TGM1 genes. Case presentation A 1...

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Main Authors: Zhou Yang (Author), Zhan Qi (Author), Zhe Xu (Author), Wei Li (Author), Lin Ma (Author)
Format: Book
Published: Wiley, 2020-03-01T00:00:00Z.
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