An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriop...

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Autori principali: Ferrero, Giovanni Battista, Howald, Cédric, Micale, Lucia, Biamino, Elisa, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Forzano, Serena, Reymond, Alexandre, Merla, Giuseppe
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2010
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987159/
https://ncbi.nlm.nih.gov/pubmed/19568270
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.108
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