Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations
Author(s) -
Robert Shenkar,
Changbin Shi,
Tania Rebeiz,
Rebecca Stockton,
David A. McDonald,
Abdul Ghani Mikati,
Lingjiao Zhang,
Cecilia Austin,
Amy Akers,
Carol J. Gallione,
Autumn Rorrer,
Murat Günel,
Min Wang,
Jorge Marcondes de Souza,
Connie Lee,
Douglas A. Marchuk,
Issam A. Awad
Publication year - 2014
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2014.97
Subject(s) - medicine , lesion , cavernous malformations , pathology , phenotype , biology , genetics , gene
The phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has not been established.
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