Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation

Circulation

Volumn 126, Issue 23, 2012, Pages 2764-2768

  Iascone, Maria ^a   Sana, Maria Elena ^a   Pezzoli, Laura ^a   Bianchi, Paolo ^a   Marchetti, Daniela ^a   Fasolini, Giorgio ^a   Sadou, Youcef ^a   Locatelli, Anna ^a   Fabiani, Flavia ^a   Mangili, Giovanna ^a   Ferrazzi, Paolo ^a  

^a OSPEDALI RIUNITI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT;

AORTA ANEURYSM; AORTA DILATION; AORTA DISEASE; AORTA ROOT; AORTA VALVE REGURGITATION; ASCENDING AORTA; CASE REPORT; DISEASE SEVERITY; EFEMP2 GENE; ELECTROCARDIOGRAM; EXOME; FEMALE; GENE; GENE SEQUENCE; HUMAN; MISSENSE MUTATION; NEWBORN; NOTE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TRANSTHORACIC ECHOCARDIOGRAPHY;

ARTERIES; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; JOINT INSTABILITY; MUTATION; SEVERITY OF ILLNESS INDEX; SKIN DISEASES, GENETIC; VASCULAR MALFORMATIONS;

EID: 84870604725     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.112.119883     Document Type: Note

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