Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)

• Main Authors: Valerio Benedetti (Author), Rosalia Canzoneri (Author), Andrea Perrelli (Author), Carlo Arduino (Author), Andrea Zonta (Author), Alfredo Brusco (Author), Saverio Francesco Retta (Author)
• פורמט: ספר
• יצא לאור: MDPI AG, 2022-06-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Cerebral Cavernous Malformation (CCM) is a cerebrovascular disease of genetic origin that predisposes to seizures, focal neurological deficits and fatal intracerebral hemorrhage. It may occur sporadically or in familial forms, segregating as an autosomal dominant condition with incomplete penetrance...