2018
DOI: 10.26226/morressier.5b5f433cb56e9b005965b93c
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A Larger Deletion of the Williams Beuren Syndrome Region Encompassing Genes Implicated in Autism Spectrum Disorder: Case Report

Abstract: Williams Beuren Syndrome (WBS): Well-studied multisystemic disorder caused by a 1.5Mb hemizygous deletion of about 28 genes on 7q11.23. Characteristic pattern of symptoms: typical facial dysmorphisms, congenital cardiopathy, weakness of connective tissue, intellectual disability and a characteristic cognitive profile that includes relative strengths in verbal term memory and lexical comprehension.

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