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

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

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...

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Bibliographic Details
Main Authors: Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Antioxidants
Subjects:
cerebrovascular disease
cerebral cavernous malformation (CCM)
next-generation sequencing (NGS)
clinical exome sequencing (CES)
<i>KRIT1</i>/<i>CCM1</i>
aberrant splicing
Online Access:https://www.mdpi.com/2076-3921/11/7/1294

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https://www.mdpi.com/2076-3921/11/7/1294

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