Multiple Cerebral Cavernous Malformations and a Novel CCM3 Germline Deletion in a German Family

Overview

Journal J Neurol

Specialty Neurology

Date 2010 Jul 13

PMID 20623299

Citations 5

Authors

Chi-un Choe

Florence Riant

Christian Gerloff

Elisabeth Tournier-Lasserve

Michael Orth

Affiliations

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PDCD10 gene mutations in multiple cerebral cavernous malformations.

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CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas.

Riant F, Bergametti F, Fournier H, Chapon F, Michalak-Provost S, Cecillon M Mol Syndromol. 2013; 4(4):165-72.

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References

Verlaan D, Roussel J, Laurent S, Elger C, Siegel A, Rouleau G . CCM3 mutations are uncommon in cerebral cavernous malformations. Neurology. 2005; 65(12):1982-3. DOI: 10.1212/01.wnl.0000188903.75144.49. View

Guclu B, Ozturk A, Pricola K, Bilguvar K, Shin D, ORoak B . Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 2005; 57(5):1008-13. DOI: 10.1227/01.neu.0000180811.56157.e1. View

Liquori C, Penco S, Gault J, Leedom T, Tassi L, Esposito T . Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics. 2007; 9(1):25-31. DOI: 10.1007/s10048-007-0109-x. View

Craig H, Gunel M, Cepeda O, Johnson E, Ptacek L, Steinberg G . Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998; 7(12):1851-8. DOI: 10.1093/hmg/7.12.1851. View

Labauge P, Denier C, Bergametti F, Tournier-Lasserve E . Genetics of cavernous angiomas. Lancet Neurol. 2007; 6(3):237-44. DOI: 10.1016/S1474-4422(07)70053-4. View