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Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations

✍ Scribed by Christina L. Liquori; Michel J. Berg; Ferdinando Squitieri; Tracey P. Leedom; Louis Ptacek; Eric W. Johnson; Douglas A. Marchuk


Book ID
117854956
Publisher
American Society of Human Genetics
Year
2007
Tongue
English
Weight
864 KB
Volume
80
Category
Article
ISSN
0002-9297

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Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mu