Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene

European Radiology

Volumn 24, Issue 8, 2014, Pages 1742-1748

  Rajeshkannan, Ramiah ^a   Kulkarni, Chinmay ^a   Kappanayil, Mahesh ^a   Nampoothiri, Sheela ^a   Malfait, Fransiska ^b   De Paepe, Anne ^b   Moorthy, Srikanth ^a  

^a AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Aortic aneurysm; Arterial tortuosity; Connective tissue disorder; CT angiography; Fibulin 4 mutation

Indexed keywords

FBLN4 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; DNA; FIBULIN-4; SCLEROPROTEIN;

AORTA STENOSIS; ARTERY DILATATION; ARTERY DISEASE; ARTICLE; ASCENDING AORTA; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; COMPUTED TOMOGRAPHIC ANGIOGRAPHY; DESCENDING AORTA; ETHNIC GROUP; EXON; FAMILY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; HUMAN; IMAGING SYSTEM; INDIA; INFANT; MALE; MULTIDETECTOR COMPUTED TOMOGRAPHY; NEWBORN; OBSERVATIONAL STUDY; PRIORITY JOURNAL; PROSPECTIVE STUDY; PULMONARY ARTERY; PULMONARY ARTERY STENOSIS; RELIGION; ANGIOGRAPHY; ARTERY; DIAGNOSTIC IMAGING; GENETICS; MAGNETIC RESONANCE ANGIOGRAPHY; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; PROCEDURES; REPRODUCIBILITY; SYNDROME; VASCULAR CALCIFICATION;

ANGIOGRAPHY; ARTERIES; CHILD; CHILD, PRESCHOOL; DIAGNOSTIC IMAGING; DNA; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MULTIDETECTOR COMPUTED TOMOGRAPHY; MUTATION; REPRODUCIBILITY OF RESULTS; SYNDROME; VASCULAR CALCIFICATION;

EID: 84905563822     PISSN: 09387994     EISSN: 14321084     Source Type: Journal    
DOI: 10.1007/s00330-014-3205-y     Document Type: Article

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