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TWIST1

Basic helix-loop-helix transcription factor.

Pathology

- Autosomal dominant mutation in Twist1 gene

References

- Howard, T. D.; Paznekas, W. A.; Green, E. D.; Chiang, L. C.; Ma, N.; Ortiz De Luna, R. I.; Delgado, C. G.; Gonzalez-Ramos, M.; Kline, A. D.; Jabs, E. W. : Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15: 36-41, 1997. PubMed ID : 8988166

- Johnson, D.; Horsley, S. W.; Moloney, D. M.; Oldridge, M.; Twigg, S. R. F.; Walsh, S.; Barrow, M.; Njolstad, P. R.; Kunz, J.; Ashworth, G. J.; Wall, S. A.; Kearney, L.; Wilkie, A. O. M. : A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am. J. Hum. Genet. 63: 1282-1293, 1998. PubMed ID : 9792856