Supravalvular aortic stenosis: Elastin arteriopathy

Circulation: Cardiovascular Genetics

Volumn 5, Issue 6, 2012, Pages 692-696

  Merla, Giuseppe ^a   Brunetti Pierri, Nicola ^b,c   Piccolo, Pasquale ^b   Micale, Lucia ^a   Loviglio, Maria Nicla ^a,d  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

Candidate genes; Cardiovascular diseases; Elastin arteriopathy; Gene mutation

Indexed keywords

ELASTIN; FIBRILLIN 1; FIBULIN 5; TRANSFORMING GROWTH FACTOR BETA; TROPOELASTIN;

3' UNTRANSLATED REGION; AORTA PRESSURE; AORTA SUPRAVALVULAR STENOSIS; AORTA VALVE STENOSIS; ARTERY DISEASE; ARTICLE; CARTILAGE CELL; CELLS; CHROMOSOME 7Q; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; DOPPLER ECHOCARDIOGRAPHY; ELASTICITY; ELASTIN ARTERIOPATHY; ENDOTHELIUM CELL; FIBROBLAST; FLOW RATE; GENE DELETION; GENETIC DISORDER; HAPLOINSUFFICIENCY; HEART FAILURE; HEART VENTRICLE HYPERTROPHY; HUMAN; KIDNEY ARTERY STENOSIS; LUNG CIRCULATION; NULL ALLELE; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROGNOSIS; PULMONARY ARTERY STENOSIS; PULSE PRESSURE; SMOOTH MUSCLE FIBER; STOP CODON; SUDDEN DEATH; SYSTOLIC HEART MURMUR; WILLIAMS BEUREN SYNDROME;

AORTA; AORTIC STENOSIS, SUPRAVALVULAR; DIAGNOSIS, DIFFERENTIAL; ELASTIN; HUMANS; SYNDROME;

EID: 84873896162     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.112.962860     Document Type: Article

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