[History of Williams syndrome].
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 anomalles 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.
Bzdúch
V
V
Detská klinika Detskej fakultnej nemocnice a Lekárskej fakulty UK-Kabinet výskumu sociálnej a biologickej komunikácie Slovenskej akadémie vied, Bratislava. bzduch@inmail.sk
Jariabková
K
K
D021921:Aortic Stenosis, Supravalvular / Q000175:diagnosis / Q000266:history; D049673:History, 20th Century; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis / Q000266:history; D008607:Intellectual Disability / Q000175:diagnosis / Q000266:history; D018980:Williams Syndrome / Q000235:genetics / Q000266:history*