17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Although microdeletions of the long arm of chromosome 17 are being reported with increasing frequency, deletions of chromosome band 17q24.2 are rare. Here we report four patients with a microdeletion encompassing chromosome band 17q24.2 with a smallest region of overlap of 713 kb containing five Ref...

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Detalhes bibliográficos
Main Authors: Vergult, Sarah, Dauber, Andrew, Chiaie, Barbara Delle, Van Oudenhove, Elke, Simon, Marleen, Rihani, Ali, Loeys, Bart, Hirschhorn, Joel, Pfotenhauer, Jean, Phillips, John A, Mohammed, Shehla, Ogilvie, Caroline, Crolla, John, Mortier, Geert, Menten, Björn
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3330218/
https://ncbi.nlm.nih.gov/pubmed/22166941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.239
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