Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations

Cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs) are common vascular abnormalities of the CNS that can lead to seizure, haemorrhage and other neurological deficits. Approximately 85% of patients present with sporadic (versus congenital) CCMs. Somatic mutations...

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Detalles Bibliográficos
Autores principales: Ren, Jian, Huang, Yazi, Ren, Yeqing, Tu, Tianqi, Qiu, Baoshan, Ai, Daosheng, Bi, Zhanying, Bai, Xue, Li, Fengzhi, Li, Jun-Liszt, Chen, Xing-jun, Feng, Ziyan, Guo, Zongpei, Lei, Jianfeng, Tian, An, Cui, Ziwei, Lindner, Volkhard, Adams, Ralf H, Wang, Yibo, Zhao, Fei, Körbelin, Jakob, Sun, Wenzhi, Wang, Yilong, Zhang, Hongqi, Hong, Tao, Ge, Woo-ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10473567/
https://www.ncbi.nlm.nih.gov/pubmed/36995941
http://dx.doi.org/10.1093/brain/awad104

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