Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 248, Issue 9, 2010, Pages 1359-1361

  Reddy, Shantan ^a   Gorin, Michael B ^b   McCannel, Tara A ^b   Tsui, Irena ^b   Straatsma, Bradley R ^b  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b JULES STEIN EYE INSTITUTE   (United States)

Author keywords

Cerebral cavernous malformation; KRIT1; Mutation; Retinal cavernous hemangioma

Indexed keywords

EYE PROTEIN; GENOMIC DNA; KREV INTERACTION TRAPPED 1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBRAL CAVERNOUS MALFORMATION; CLINICAL FEATURE; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; FLUORESCENCE ANGIOGRAPHY; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; PRIORITY JOURNAL; RETINA DISEASE; RETINAL CAVERNOUS HEMANGIOMA; SACCULAR ANEURYSM;

ADULT; ANKYRIN REPEAT; FEMALE; FLUORESCEIN ANGIOGRAPHY; FRAMESHIFT MUTATION; HEMANGIOMA, CAVERNOUS; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MICROTUBULE-ASSOCIATED PROTEINS; PEDIGREE; PROTO-ONCOGENE PROTEINS;

EID: 77955550214     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-010-1329-6     Document Type: Article

References (6)

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6. F Cave-Riant C Denier P Labauge M Cécillon J Maciazek A Joutel S Laberge-Le Couteulx E Tournier-Lasserve 2002 Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations Eur J Hum Genet 10 733 740 10.1038/sj.ejhg.5200870 1:CAS:528:DC%2BD38XotFOku70%3D 12404106 (Pubitemid 35460583)