Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

BACKGROUND: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considere...

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Bibliografiset tiedot
Päätekijät: Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2012
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3285034/
https://ncbi.nlm.nih.gov/pubmed/22226172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-5-13
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