Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

Williams Beuren syndrome (WBS) is a multisystemic disorder caused by a hemizygous deletion of 1.5 Mb on chromosome 7q11.23 spanning 28 genes. A few patients with larger and smaller WBS deletion have been reported. They show clinical features that vary between isolated SVAS to the full spectrum of WB...

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Detalhes bibliográficos
Main Authors: Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefano, Merla, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865388/
https://ncbi.nlm.nih.gov/pubmed/23756441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.101
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