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Late-onset familial cerebral cavernous malformation without a family history: a case description.

作者信息

Zhang Zhuangzhuang, Sun Weiping, Wang Zhaoxia, Wei Luhua

机构信息

Department of Neurology, Peking University First Hospital, Beijing, China.

Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, China.

出版信息

Quant Imaging Med Surg. 2025 Sep 1;15(9):8717-8721. doi: 10.21037/qims-2025-760. Epub 2025 Aug 12.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d4f/12397702/dae77b084528/qims-15-09-8717-f1.jpg

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本文引用的文献

1
Cavernous Malformations of the Central Nervous System.
N Engl J Med. 2024 Mar 14;390(11):1022-1028. doi: 10.1056/NEJMra2305116.
4
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.
Neurogenetics. 2023 Apr;24(2):137-146. doi: 10.1007/s10048-023-00714-y. Epub 2023 Mar 9.
5
Five-year symptomatic hemorrhage risk of untreated brainstem cavernous malformations in a prospective cohort.
Neurosurg Rev. 2022 Aug;45(4):2961-2973. doi: 10.1007/s10143-022-01815-2. Epub 2022 May 28.
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Cerebral cavernous malformations do not fall in the spectrum of PIK3CA-related overgrowth.
J Neurol Neurosurg Psychiatry. 2022 Apr 27. doi: 10.1136/jnnp-2022-328901.
7
Somatic Mutations in Sporadic Cerebral Cavernous Malformations.
N Engl J Med. 2021 Sep 9;385(11):996-1004. doi: 10.1056/NEJMoa2100440.
8
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation.
Am J Hum Genet. 2021 May 6;108(5):942-950. doi: 10.1016/j.ajhg.2021.04.005. Epub 2021 Apr 22.
9
10
KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.
J Mol Neurosci. 2021 Sep;71(9):1876-1883. doi: 10.1007/s12031-021-01814-w. Epub 2021 Mar 2.

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