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

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

doi:https://doi.org/10.1186/s12864-016-2801-4

doi.org/10.1186/s12864-016-2801-4

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

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..., Stephen J. Palmer

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BMC Genomics4.40

Volume: 17, Issue: 1

Published: Jun 13, 2016

Abstract

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 for the cause of the facial...

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Paper Details

Title

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

DOI

doi.org/10.1186/s12864-016-2801-4

Published Date

Jun 13, 2016

Journal

BMC Genomics

Volume

17

Issue

1

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