Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Keyword - Williams-Beuren syndrome (KW-0856)

Definition

Protein which, if defective, causes Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23. It is a rare developmental autosomal dominant disorder characterized by cardiovascular abnormalities, elfin face, mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia.

Synonyms

  • WBS

Category

Disease

Graphical

Williams-Beuren syndromeDisease
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again