| 1 | BOR3, BOS3, SIX1 |
| Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations. | |
| Patrick AN, Schiemann BJ, Yang K, Zhao R, Ford HL. | |
| J Biol Chem 284(31):20781-90. Epub 2009 Jun 4. 2009 | |
| 2 | BOR3, BOS3, SIX1 |
| SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. | |
| Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ. | |
| Hum Mutat 29(4):565. 2008 | |
| 3 | BOR3, BOS3, DFNA23, EYA1, SIX1 |
| SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. | |
| Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F. | |
| Proc Natl Acad Sci U S A 101(21):8090-5. Epub 2004 May 12. 2004 | |