Case Report: A novel heterozygous nonsense mutation in KRIT1 cause hereditary cerebral cavernous malformation

Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system and mainly characterized by enlarged capillary cavities without intervening brain parenchyma. Genetic studies have identified three disease-causing genes (CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10) responsi...

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Detalles Bibliográficos
Autores principales: Liu, Zhenxing, Guo, Kaikai, Hu, Xuebin, Zhang, Xianqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174234/
https://www.ncbi.nlm.nih.gov/pubmed/37182185
http://dx.doi.org/10.3389/fonc.2023.1141488

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10174234/
https://www.ncbi.nlm.nih.gov/pubmed/37182185
http://dx.doi.org/10.3389/fonc.2023.1141488

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