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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Detalles Bibliográficos
Autores principales: STREAȚĂ, I., ȘERBAN-ȘOȘOI, S., BUDIȘTEANU, M., PÎRVU, A., BURADA, F., MIXICH, F., IOANA, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical University Publishing House Craiova 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256167/
https://www.ncbi.nlm.nih.gov/pubmed/30568834
http://dx.doi.org/10.12865/CHSJ.42.02.14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6256167/
https://www.ncbi.nlm.nih.gov/pubmed/30568834
http://dx.doi.org/10.12865/CHSJ.42.02.14

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