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随着KRAS (G12D) 突变的线性神经脂综合征的尸体解剖案例
Akira Ohishi1, Yasunori Enomoto2, Hideto Iwafuchi3
1Maternal-Fetal and Neonatal Care Center, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Pathology international
|July 12, 2024
概括
线性神经脂综合征 (LNSS) 是一种罕见的神经皮肤疾病. 这一案例突出了新的尸检发现,并证实了马赛克KRAS突变是其原因.
科学领域:
- 遗传学 遗传学 是一个
- 皮肤病学 皮肤病学
- 神经学 神经学
背景情况:
- 线性神经脂综合征 (LNSS) 是一种复杂的神经皮肤疾病.
- 它的特点是系统性并发症影响多个器官.
- 马赛克RAS基因突变与它的病因有关.
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