文章基本信息

标题：Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
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作者：Fady Hannah-Shmouni ; Lauren MacNeil ; Irene Lara-Corrales 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2019
卷号：21
页码：1-3
DOI：10.1016/j.ymgmr.2019.100534
出版社：Elsevier B.V.
摘要：Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identified tyrosinemia type II on whole-exome sequencing in a 7-year-old Syrian refugee that presented with PPK. Dietary therapy helped improve her overall symptoms.
关键词：PPK Palmoplantar keratoderma