An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Clinical Genetics

Volumn 83, Issue 4, 2013, Pages 337-344

  Hilhorst Hofstee, Y ^a   Scholte, A J H A ^a   Rijlaarsdam, M E B ^a   van Haeringen, A ^a   Kroft, L J ^a   Reijnierse, M ^a   Ruivenkamp, C A L ^a   Versteegh, M I M ^a   Pals, G ^b   Breuning, M H ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Aortic aneurysm; Aortic dissection; Copy number variant; Osteoarthritis; SMAD3

Indexed keywords

SMAD3 PROTEIN; SMAD3 PROTEIN, HUMAN;

ADULT; ANEURYSMS OSTEOARTHRITIS SYNDROME; AORTA ANEURYSM; AORTA DISSECTION; ARTICLE; CARDIOVASCULAR RISK; CHILD; CHROMOSOME 15; CLINICAL ARTICLE; COPY NUMBER VARIATION; FEMALE; GENE DISRUPTION; GENOME; HAPLOINSUFFICIENCY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; OSTEOARTHRITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; ADOLESCENT; AGED; CHROMOSOME DELETION; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; PEDIGREE; THORACIC AORTA ANEURYSM;

ADOLESCENT; ADULT; AGED; AORTIC ANEURYSM, THORACIC; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; SMAD3 PROTEIN;

EID: 84874987057     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01931.x     Document Type: Article

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