Introduction: Williams syndrome

Introduction: Williams syndrome.

In the nearly 50 years since the description of Williams syndrome by [Williams et al. (1961); Circulation 24:1311-1318], the focus of scientific inquiry has shifted from identification, definition, and description of the syndrome in small series to genotype-phenotype correlation, pathophysiologic investigation in both humans and in animal models, and therapeutic outcomes in large cohorts. Study...

Williams syndrome.

Williams syndrome

Williams syndrome...people with intact language, intact face processing and very low IQ, right? Wrong! That’s the propagated myth because, if it were true, it would be such an elegant example of innate modularity at the genetic, brain and cognitive levels. But numerous labs across the world have shown that although vocabulary levels can be surprisingly high in Williams syndrome children, they a...

Williams-Beuren syndrome.

Copyright © 2010 Massachusetts Medical Society. Williams–Beuren syndrome (also known as Williams’ syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multi­ system disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic ph...

Quick guide Williams Syndrome

Williams syndrome...people with intact language, intact face processing and very low IQ, right? Wrong! That’s the propagated myth because, if it were true, it would be such an elegant example of innate modularity at the genetic, brain and cognitive levels. But numerous labs across the world have shown that although vocabulary levels can be surprisingly high in Williams syndrome children, they a...