GTF2IRD2 (GTF2I repeat domain containing 2)
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GTF2I repeat domain containing 2 (GTF2IRD2) is a transcription factor that may be involved in the development of facial features and tooth formation. Copies of this gene cluster to the Williams-Beuren syndrome region at 7q11.23 and have been hypothesized to play a role in the etiology of the disorder. There are approximately 4-5 more copies of GTF2IRD2 in the human genome than in other primates but this significance of these copies is unknown.
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TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome., , Dev Dyn, 2007 Oct, Volume 236, Issue 10, p.2884-8, (2007)
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome., , Eur J Hum Genet, 07/2004, Volume 12, Issue 7, p.551-60, (2004)
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