Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams–Beuren syndrome

Published:2004-04-21 Issue:7 Volume:12 Page:551-560
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Tipney Hannah J,Hinsley Timothy A,Brass Andrew,Metcalfe Kay,Donnai Dian,Tassabehji May

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/5201174.pdf

Reference30 articles.

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3. Valero M, de Luis O, Cruces J, Pérez Jurado L : Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams–Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Genomics 2000; 69: 1–13.

4. Tassabehji M, Metcalfe K, Karmiloff-Smith A et al: Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 1999; 64: 118–125.

5. Ewart A, Morris C, Atkinson D et al: Hemizygosity at the elastin locus in a development disorder, Williams syndrome. Nat Genet 1993; 5: 11–16.

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