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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3285034/ https://www.ncbi.nlm.nih.gov/pubmed/22226172 http://dx.doi.org/10.1186/1756-0500-5-13 |