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  • Key words: Supravalvular aortic stenosis — William's syndrome — Elastin  (1)
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    Electronic Resource
    Electronic Resource
    Springer
    Pediatric cardiology 20 (1999), S. 103-107 
    ISSN: 1432-1971
    Keywords: Key words: Supravalvular aortic stenosis — William's syndrome — Elastin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Characterization of the molecular basis of structural cardiac disease includes elucidating the pathogenesis of certain vascular disease by demonstrating mutations of the Elastin gene as the cause of familial supravalvular aortic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of SVAS has clinical implications in terms of prenatal and presymptomatic diagnosis and possible earlier intervention with medical therapy. This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease. Finally, the implications which Elastin mutation identification has on current clinical practice and future research directions are considered.
    Type of Medium: Electronic Resource
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