The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation

The frameshift Leu220Phefs*2 variant in KRIT1 accounts for early acute bleeding in patients affected by cerebral cavernous malformation

Background and Objectives: Cerebral cavernous malformation (CCM) is a neurovascular disease characterized by abnormally expanded and tortuous microvessels with increased predisposition to thrombosis and focal hemorrhage. Its incidence is estimated to range between 0.4% and 0.8%. Sporadic and familia...

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Bibliographic Details
Main Authors: Autilia Tommasina Buonagura, Teresa Somma, Francesca Vitulli, Giuseppina Vitiello, Immacolata Andolfo, Felice Esposito, Roberta Russo, Achille Iolascon, Paolo Cappabianca
Format: Article
Language:English
Published: Elsevier 2021-12-01
Series:Interdisciplinary Neurosurgery
Subjects:
Cerebral cavernous malformation
KRIT1
Genetic counseling
Genetic testing
Next-generation sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214751921002796

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http://www.sciencedirect.com/science/article/pii/S2214751921002796

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