Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams’ syndrome patients in Saudi Arabia

BACKGROUND: Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder characterized by dysmorphic features, cardiovascular defects, cognitive deficits and developmental delay. WBS is caused by a segmental aneuploidy of chromosome 7 due to heterozygous deletion of contiguous genes at the l...

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Detalles Bibliográficos
Autores principales: Hussein, I. R., Magbooli, A., Huwait, E., Chaudhary, A., Bader, R., Gari, M., Ashgan, F., Alquaiti, M., Abuzenadah, A., AlQahtani, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981984/
https://www.ncbi.nlm.nih.gov/pubmed/27525043
http://dx.doi.org/10.1186/s13039-016-0266-4

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