RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome

BACKGROUND: Williams-Beuren Syndrome (WBS) is a genetic disorder associated with multisystemic abnormalities, including craniofacial dysmorphology and cognitive defects. It is caused by a hemizygous microdeletion involving up to 28 genes in chromosome 7q11.23. Genotype/phenotype analysis of atypical...

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Detalhes bibliográficos
Publicado no:BMC Genomics
Main Authors: Corley, Susan M., Canales, Cesar P., Carmona-Mora, Paulina, Mendoza-Reinosa, Veronica, Beverdam, Annemiek, Hardeman, Edna C., Wilkins, Marc R., Palmer, Stephen J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4907016/
https://ncbi.nlm.nih.gov/pubmed/27295951
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-016-2801-4
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