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Prevalence, genetic and clinical characteristics in first-degree relatives of patients with familial cerebral cavernous malformations in China.

Chunwang LiLingyun ZhuoYaqing KangPenghui LiuWeilin HuangQixuan LiKe MaShuna HuangXinru LinWeiheng ZhuangHaojie WangDarong ChenHuimin WangQiu HeZhuyu GaoXuegang NiuYajun JingLingjun YanBin GaoDengliang WangShaowei LinSiying WuYuanxiang LinDe-Zhi KangYuan-Xiang Lin
Published in: Stroke and vascular neurology (2024)
Based on MRI and genetic analysis, the prevalence of CCMs in the FDRs of families with FCCMs in China was 36.5%. Genetic counselling and MRI screening are recommended for FDRs in patients with more than three CCM lesions on T2WI.
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