案例报告:PTEN基因变异与多个dAVFs的攻击性病例之间的关联
Glaucia Suzanna Jong-A-Liem1,2, Talita Helena Martins Sarti1,2, Mariusi Glasenapp Dos Santos3
1Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Frontiers in neurology
|April 23, 2024
概括
在患有复发性持续性动脉静脉囊的患者中发现了一种新的PTEN基因变异表型. 这一发现扩大了对PTEN hamartoma瘤综合征及其各种临床表现的理解.
科学领域:
- 遗传学和分子生物学
- 神经学 神经学
- 血管医学 血管医学
背景情况:
- 酸酶和张素同类基因 (PTEN) 的突变与PTEN hamartoma瘤综合征 (PHTS) 相关,PTEN是由瘤和血管异常特征的一组疾病.
- PHTS包括诸如考登综合征 (CS),班纳扬-莱利-鲁瓦尔卡巴综合征 (BRRS) 和蛋白质综合征等疾病,通常呈现出各种临床表现.
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