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, psy...

Full description

Saved in:
Bibliographic Details
Published inČasopis lékařů českých Vol. 141; no. 20; p. 651
Main Authors Bzdúch, V, Jariabková, K
Format Journal Article
LanguageSlovak
Published Czech Republic 11.10.2002
Subjects
Aortic Stenosis, Supravalvular - diagnosis
Aortic Stenosis, Supravalvular - history
History, 20th Century
Humans
Hypercalcemia - diagnosis
Hypercalcemia - history
Intellectual Disability - diagnosis
Intellectual Disability - history
Williams Syndrome - genetics
Williams Syndrome - history
Online AccessGet more information

Cover

More Information
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 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.
ISSN:0008-7335