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Branchio-Oto-Renal Syndrome

Locus (OMIM)Gene (OMIM)InheritanceKey Locus References (PubMed)Key Gene References (PubMed)
Evidence (ClinGen)
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BOR1, BOS1EYA1Autosomal DominantKumar et al., 1992; Smith et al., 1992; Wang et al., 1994; Ni et al., 1994; Kumar et al., 1996Abdelhak et al., 1997; Vincent et al., 1997Definitive
BOR2SIX5Autosomal DominantHoskins et al., 2007; Krug et al., 2011Hoskins et al., 2007; Krug et al., 2011Disputed
BOS2unknownAutosomal DominantKumar et al., 2000n/an/a
BOS3SIX1Autosomal DominantRuf et al., 2003Ruf et al., 2004Definitive

n/a = not applicable

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