Ontology highlight
ABSTRACT:
SUBMITTER: Much CD
PROVIDER: S-EPMC6879547 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Much Christiane D CD Schwefel Konrad K Skowronek Dariush D Shoubash Loay L von Podewils Felix F Elbracht Miriam M Spiegler Stefanie S Kurth Ingo I Flöel Agnes A Schroeder Henry W S HWS Felbor Ute U Rath Matthias M
Frontiers in neurology 20191120
Autosomal dominant cerebral cavernous malformation (CCM) represents a genetic disorder with a high mutation detection rate given that stringent inclusion criteria are used and copy number variation analyses are part of the diagnostic workflow. Pathogenic variants in either <i>CCM1</i> (<i>KRIT1</i>), <i>CCM2</i> or <i>CCM3</i> (<i>PDCD10</i>) can be identified in 87-98% of CCM families with at least two affected individuals. However, the interpretation of novel sequence variants in the 5'-region ...[more]