Ontology highlight
ABSTRACT:
SUBMITTER: Spiegler S
PROVIDER: S-EPMC4988258 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Spiegler Stefanie S Kirchmaier Bettina B Rath Matthias M Korenke G Christoph GC Tetzlaff Fabian F van de Vorst Maartje M Neveling Kornelia K Acker-Palmer Amparo A Kuss Andreas W AW Gilissen Christian C Fischer Andreas A Schulte-Merker Stefan S Felbor Ute U
Molecular syndromology 20160618 3
Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been publis ...[more]