Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.

doi:10.1177/0271678X20914996

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Article

Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.

Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism - 1 Jun 2021

Lin Jing, Liang Jie, Wen Jun, Luo Man, Li Jiaoxing, Sun Xunsha, Xu Xiaowei, Li Jianli, Wang Dongxian, Wang Jie, Chen Huimin, Lai Rong, Liang Fengyin, Li Chuan, Ye Fei, Zhang Jingjing, Zeng Jinsheng, Yang Shulan, Sheng Wenli

Abstract excerpt

Although familial forms of cerebral cavernous malformation are mainly attributed to three CCM genes (KRIT1, CCM2 and PDCD10), no mutation is identified in sporadic cerebral cavernous malformation cases with a unique lesion, indicating additional genes for sporadic cerebral cavernous malformation. To screen the candidate genes, we conducted whole exome sequencing in 31 sporadic cerebral cavernous malformation...

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PMID: 32248732
DOI: 10.1177/0271678X20914996
PMCID: PMC8142133

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