Cerebral cavernous malformations: From molecular pathogenesis to genetic counselling and clinical management

European Journal of Human Genetics

Volumn 20, Issue 2, 2012, Pages 134-140

  Haasdijk, Remco A ^a   Cheng, Caroline ^a   Maat Kievit, Anneke J ^a   Duckers, Henricus J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

CCM; genetic counselling; molecular mechanism

Indexed keywords

FASUDIL; INTEGRIN; K REV INTERACTION TRAPPED PROTEIN 1; MALCAVERNIN; PROGRAMMED CELL DEATH 10 PROTEIN; PROTEIN; SIMVASTATIN; SORAFENIB; TF 1 CELL APOPTOSIS RELATED GENE 15 PROTEIN; UNCLASSIFIED DRUG;

CAVERNOUS HEMANGIOMA; CELL POLARITY; CLINICAL FEATURE; EXTRACELLULAR MATRIX; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HISTOLOGY; HUMAN; INTRACELLULAR SIGNALING; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; PROTEIN FUNCTION; PROTEIN INTERACTION; REVIEW;

CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; GENE EXPRESSION PROFILING; GENETIC ASSOCIATION STUDIES; GENETIC COUNSELING; HUMANS; MUTATION; PROGNOSIS;

EID: 84855790549     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.155     Document Type: Review

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