PDCD10
Pathology
germline mutations in cerebral cavernous malformations locus 3 (CCM3) (#15543491#)
- Locus CCM3 (MIM.603285) at 3q25.2-q27
References
Bergametti, F.; Denier, C.; Labauge, P.; Arnoult, M.; Boetto, S.; Clanet, M.; Coubes, P.; Echenne, B.; Ibrahim, R.; Irthum, B.; Jacquet, G.; Lonjon, M.; Moreau, J. J.; Neau, J. P.; Parker, F.; Tremoulet, M.; Tournier-Lasserve, E.; Societe Francaise de Neurochirurgie :
Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am. J. Hum. Genet. 76: 42-51, 2005. PubMed ID : #15543491#
Verlaan, D. J.; Roussel, J.; Laurent, S. B.; Elger, C. E.; Siegel, A. M.; Rouleau, G. A. : CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology 65: 1982-1983, 2005. PubMed ID : #16380626#
Voss, K.; Stahl, S.; Schleider, E.; Ullrich, S.; Nickel, J.; Mueller, T. D.; Felbor, U. : CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. Neurogenetics 8: 249-256, 2007. PubMed ID : #17657516#