Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Ob...

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Publicat a:Biomed Res Int
Autors principals: Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Furusawa, Erika Arai, Zanardo, Evelin Aline, Costa, Larissa Sampaio de Athayde, Kulikowski, Leslie Domenici, Bertola, Debora Romeo, Kim, Chong Ae
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4450269/
https://ncbi.nlm.nih.gov/pubmed/26090456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/903175
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