Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
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DOI: 10.3174/ajnr.a7396
Abstract: BACKGROUND AND PURPOSE: Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a highly characteristic marker for branchio-oto-renal syndrome. Our… read more here.
Keywords: branchio oto; syndrome genotype; renal syndrome; oto renal ... See more keywords
The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
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DOI: 10.3174/ajnr.a7653
Abstract: BACKGROUND AND PURPOSE: An “unwound” or “offset” cochlea has been described as a characteristic imaging feature in patients with branchio-oto-renal syndrome, and recently recognized to be associated in particular to those with EYA1 gene mutations.… read more here.
Keywords: renal syndrome; turn alignment; branchio oto; oto renal ... See more keywords