Article

Atypical Deletion of Williams-beuren Syndrome Reveals the Mechanism of Neurodevelopmental Disorders

2021-02-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> The Williams-Beuren syndrome (WBS) is a multiple phylogenetic disorder, caused by the hemizygous deletion of 1.55 to 1.84 Mb on chromosome 7q11.23, which encodes a fragment of 26 to 28 genes. Among these genes, the deletion of the elastin (ELN) gene haplotype is the main cause of cardiovascular abnormalities. Other genes, such as CLIP2, GTF2IRD1, and GTF2I, may b...

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Literature Corpus work: d3e26f13-7e6c-5264-9f75-f13043d9a9f6
DOI: 10.21203/rs.3.rs-94534/v2

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