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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus

The Williams–Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the...

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Detaylı Bibliyografya
Asıl Yazarlar: Somerville, Martin J., Mervis, Carolyn B., Young, Edwin J., Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A., Morris, Colleen A., Scherer, Stephen W., Osborne, Lucy R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2005
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2893213/
https://ncbi.nlm.nih.gov/pubmed/16236740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa051962
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