title: Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas.
authors.affiliation: Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: christine.fauth@i-med.ac.at.
authors.forename: C
authors.initials: C
authors.lastname: Fauth
authors.affiliation: Clinical Department of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: K
authors.initials: K
authors.lastname: Rostasy
authors.affiliation: Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Rath
authors.affiliation: Department of Neuroradiology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: E
authors.initials: E
authors.lastname: Gizewski
authors.affiliation: Department of Radiology, A.ö. Bezirkskrankenhaus Lienz, Lienz, Austria.
authors.forename: A G
authors.initials: AG
authors.lastname: Lederer
authors.affiliation: Department of Neurosurgery, University Hospital Essen, Essen, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Sure
authors.affiliation: Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
authors.forename: J
authors.initials: J
authors.lastname: Zschocke
authors.affiliation: Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Greifswald, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Felbor
mesh_terms: D000328:Adult; D000368:Aged; D051017:Apoptosis Regulatory Proteins / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000235:genetics*; D002648:Child; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008577:Meningeal Neoplasms / Q000235:genetics*; D008579:Meningioma / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: D051017:Apoptosis Regulatory Proteins; D008565:Membrane Proteins; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins
keywords: CCM3 mutation; Cerebral cavernous malformations; Dural cavernous angiomas; Early-onset cerebral haemorrhage; Meningiomas