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A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family
Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms. Mutations in the KRIT1, CCM2, and PDCD10 genes cause the development of FCCM. Appr...
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| Publicat a: | Front Neurosci |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7813800/ https://ncbi.nlm.nih.gov/pubmed/33469417 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2020.604350 |
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