亲属焦点细分型淋巴细胞硬化与阿尔波特类淋巴细胞底层变化,由配对盒蛋白2基因变异引起

Yuko Yamada1, Hiroki Yokoyama2, Ryo Kinoshita2

  • 1Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, 36-1, Nishi-Cho, Yonago, Tottori, 683-8504, Japan. gamiko@tottori-u.ac.jp.

CEN case reports
|October 28, 2023
PubMed
概括

一种新的配对盒蛋白2 (PAX2) 基因变异导致焦点细分型淋巴细胞硬化症,与阿尔波特类的底层膜变化. 这一发现扩大了对PAX2相关病的理解,超出了结肠瘤综合征.

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