Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations
Author:
Publisher
Frontiers Media SA
Subject
Clinical Neurology,Neurology
Reference33 articles.
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2. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas;Laberge-le Couteulx;Nat Genet.,1999
3. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations;Liquori;Am J Hum Genet.,2003
4. Mutations within the MGC4607 gene cause cerebral cavernous malformations;Denier;Am J Hum Genet.,2004
5. Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation;D'Angelo;Brain Pathol.,2011
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1. Molecular genetic features and clinical manifestations in Chinese familial cerebral cavernous malformation: from a novel KRIT1/CCM1 mutation (c.1119dupT) to an overall view;Frontiers in Neuroscience;2023-05-05
2. A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations;neurogenetics;2023-03-09
3. Natural Course, Clinical Profile, and Treatment Strategies for Cerebral Cavernous Malformations;World Neurosurgery;2022-03
4. Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability;American Journal of Medical Genetics Part A;2020-09-14
5. A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation;Frontiers in Neurology;2020-02-07
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