| 1 | BOR3, BOS3, SIX1
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| Biochemical and Functional Characterization of Six SIX1 Branchio-oto-renal Syndrome Mutations.
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| Patrick AN, Schiemann BJ, Yang K, Zhao R, Ford HL.
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| J Biol Chem 284(31):20781-90. Epub 2009 Jun 4. 2009
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| 2 | BOR3, BOS3, SIX1
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| SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR.
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| Kochhar A, Orten DJ, Sorensen JL, Fischer SM, Cremers CW, Kimberling WJ, Smith RJ.
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| Hum Mutat 29(4):565. 2008
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| 3 | EYA1, BOR1, SIX1, BOS3
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| Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
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| Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L.
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| Eur J Hum Genet 15(11):1121-31. Epub 2007 Jul 18. 2007
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| 4 | BOR3, BOS3, DFNA23, EYA1, SIX1
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| SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
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| 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.
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| Proc Natl Acad Sci U S A 101(21):8090-5. Epub 2004 May 12. 2004
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| 5 | BOS3
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| A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3.
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| Ruf RG, Berkman J, Wolf MT, Nurnberg P, Gattas M, Ruf EM, Hyland V, Kromberg J, Glass I, Macmillan J, Otto E, Nurnberg G, Lucke B, Hennies HC, Hildebrandt F.
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| J Med Genet 40(7):515-9. No abstract available. 2003
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| 6 | BOS2, BOS3
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| Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome.
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| Marres HA, Cremers CW.
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| Ann Otol Rhinol Laryngol 100(11):928-32. 1991
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