Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Williams Syndrome

"Williams Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.


This graph shows the total number of publications written about "Williams Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Williams Syndrome" was a major or minor topic of these publication.
Bar chart showing 102 publications over 26 distinct years, with a maximum of 12 publications in 2001
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.