Article

Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations

2024-02-14

Abstract excerpt

<title>Abstract</title> <p>Loss-of-function variants in <italic>CCM1/KRIT1</italic>, <italic>CCM2/MGC4607</italic> and <italic>CCM3/PDCD10</italic> genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations. However, genomic DNA sequencing combined to large rearrangement screening fails to detect a pathogenic variant in 5% of the patients. We report a family with tw...

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Literature Corpus work: b7200409-0238-5148-b2f1-b54a29eed8b0
DOI: 10.21203/rs.3.rs-3936881/v1

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