SIX1 mutation screening in 247 branchio-
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Amit Kochhar; Dana J. Orten; Jessica L. Sorensen; Stephanie M. Fischer; Cor W. R
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Article
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2008
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John Wiley and Sons
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English
⚖ 932 KB
## Communicated by Peter Humphries Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.