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Article

Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation

20 Jan 2022

Abstract excerpt

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 goals were to examine the prevalence of this finding in a branchio-oto-renal syndrome cohort and analyze genetic-phenotypic associations not previously...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35058298
DOI: 10.3174/ajnr.a7396

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