Ontology highlight
ABSTRACT:
SUBMITTER: Delgado LM
PROVIDER: S-EPMC3638923 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Molecular syndromology 20130228 3
Williams-Beuren syndrome is a rare multisystem neurodevelopmental disorder caused by a 1.55-1.84-Mb hemizygous deletion on chromosome 7q11.23. The classical phenotype consists of characteristic facial features, supravalvular aortic stenosis, intellectual disability, overfriendliness, and visuospatial impairment. So far, 26-28 genes have been shown to contribute to the multisystem phenotype associated with Williams-Beuren syndrome. Among them, haploinsufficiency of the ELN gene has been shown to ...[more]