A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation
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DOI: 10.1016/j.clineuro.2017.11.005
Abstract: BACKGROUND Cerebral cavernous malformation (CCM) is a relatively rare congenital vascular anomaly in the central venous system. Its inherited form, familial cerebral cavernous malformation (FCCM), is an autosomal-dominant disease with incomplete penetrance. The pathogenic genes… read more here.
Keywords: family; cerebral cavernous; ccm1 krit1; cavernous malformation ... See more keywords