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Article

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

BMC genomics - 13 Jun 2016

Corley Susan M, Canales Cesar P, Carmona-Mora Paulina, Mendoza-Reinosa Veronica, Beverdam Annemiek, Hardeman Edna C, Wilkins Marc R, Palmer Stephen J

Abstract excerpt

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 microdeletions implicates two evolutionary-related transcription factors, GTF2I and GTF2IRD1, as prime candidates...

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Identifiers

PMID: 27295951
DOI: 10.1186/s12864-016-2801-4
PMCID: PMC4907016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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