Array CGH - A Powerful Tool in Molecular Diagnostic of Pathogenic Microdeletions - Williams-Beuren Syndrome - A Case Report

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 three micro...

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Veröffentlicht in:	Current health sciences journal 2016-04, Vol.42 (2), p.207-212
Hauptverfasser:	Streață, I, Șerban-Șoșoi, S, Budișteanu, M, Pîrvu, A, Burada, F, Mixich, F, Ioana, M
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report
Online-Zugang:	Volltext
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