Citations for
1GTF2IRD2, WBS
A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome.
Porter MA, Dobson-Stone C, Kwok JB, Schofield PR, Beckett W, Tassabehji M.
PLoS One 7(10):e47457. doi: 10.1371/journal.pone.0047457. Epub 2012 Oct 31. 2012
2GTF2IRD1, GTF2IRD2
TFII-I gene family during tooth development: candidate genes for tooth anomalies in Williams syndrome.
Ohazama A, Sharpe PT.
Dev Dyn 236(10):2884-8.PMID: 17823943 2007
3GTF2IRD2
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA.
Am J Hum Genet 78(4):533-42. Epub 2006 Jan 31.PMID: 16532385 2006
4GTF2IRD2, GTF2IRD2P
Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, Tassabehji M.
Eur J Hum Genet 12(7):551-60. 2004
5WBS, GTF2IRD2
GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
Makeyev AV, Erdenechimeg L, Mungunsukh O, Roth JJ, Enkhmandakh B, Ruddle FH, Bayarsaihan D.
Proc Natl Acad Sci U S A 101(30):11052-7. Epub 2004 Jul 08. 2004