Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Cerebral cavernous (or capillary-venous) malformations (CCM) have a prevalence of about 0.1–0.5% in the general population. Genes mutated in CCM encode proteins that modulate junction formation between vascular endothelial cells. Mutations lead to the development of abnormal vascular structures. In...

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Hlavní autoři: Haasdijk, Remco A, Cheng, Caroline, Maat-Kievit, Anneke J, Duckers, Henricus J
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
Témata:
Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260921/
https://ncbi.nlm.nih.gov/pubmed/21829231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.155
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