Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Branchiootic syndrome 3 is an autosomal dominant disorder caused by mutations of the SIX1 gene.
| 1. |
Ruf RG et al. (2003) A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. 
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| 2. |
Ruf RG et al. (2004) SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
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| 3. |
Sanggaard KM et al. (2007) 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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| 4. |
Kumar S et al. (2000) Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.
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| 5. |
OMIM.ORG article Omim 608389
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