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Keyword Williams-Beuren syndrome

UniProtKB (30) rdf/xml obo
DefinitionProtein 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
CategoryDisease
GraphicalDiseaseWilliams-Beuren syndrome