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由ABCA12变异引起的蛋白质皮肤表现:红色皮质皮质变异性类似于缺血症和独特的棕植物皮质皮质皮质

Chih-Yu Chang1,2, Min-Chia Yang1,2, Hui-Ching Cheng1

  • 1Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.

Clinical and experimental dermatology
|November 5, 2024
PubMed
概括

在ABCA12基因的病原性变异导致轻度 Ichthyosis 独特的皮肤模式. 变异位置影响临床表现,扩大已知的ABCA12基因型-表型谱.

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