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Updated: Sep 16, 2025

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在大脑小血管疾病中共存的异构性NOTCH3和HTRA1突变的病例

Masataka Yamashiro1, Daigo Yasutomi2, Yuichiro Ohya2

  • 1Department of Neurology, National Hospital Organization Okinawa Hospital, Okinawa, Japan. masataka19930706@gmail.com.

Human genome variation
|July 9, 2025
PubMed
概括

这项研究报告了一个罕见的NOTCH3和HTRA1突变共存的罕见病例,导致遗传性脑小血管疾病 (CSVD). 该患者表现出独特的症状,表明这些在CSVD中组合的遗传变异的潜在协同作用.

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