Summary:
History of the Williams syndrome (WS) represents a process of detailed analysis of phenotypic markers and of
attempts to reveal their origin. This demanding tasks have brought many valuable findings, which were employed
in different fields of medicine, namely in cardiology, metabolism, genetics, psychology and cognitive neurosciences.
Discovery of the genetic basis of the disease closed the first period of the syndrome analysis. Genetic studies have
been proceeding and WS can be taken as a model syndrome for the behavioral genes identification. Similarly the
description of the pathogenesis of vascular anomalies represents the key for understanding of the pathogenesis of
other, more common vascular diseases. The article brings the review of the history of the WS.
Key words:
Williams syndrome, idiopatic hypercalcemia, supravalvular stenosis, mental retardation, vitamin D.
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