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Papers of the Week


2022


Front Neurol


13

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the Gene: A Case Report and Review of the Literature.

Authors

Liu W, Liu M, Lu D, Wang J, Cao Z, Liu X, Feng Z, Huang B, Wang X
Front Neurol. 2022; 13:795514.
PMID: 35444609.

Abstract

Familial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: and . Over the past decade, a few cases of cerebral cavernous malformation (CCM) caused by different gene mutations have been reported in Chinese families. Herein, we introduce a Chinese family affected by FCCM due to a kind of frameshift mutation. At the same time, a literature review was conducted to identify case reports of familial cerebral cavernous malformation.