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Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report
ABSTRACT: Williams-Beuren syndrome (WBS) (OMIM 194050) is caused by interstitial deletions or duplications of the 7q11.23 chromosomal region and characterised through a complex phenotype. We described a case diagnosed clinically and genetically confirmed through aCGH. Genetic assessment identified t...
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| Publicado no: | Curr Health Sci J |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medical University Publishing House Craiova
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6256167/ https://ncbi.nlm.nih.gov/pubmed/30568834 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12865/CHSJ.42.02.14 |
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