EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families.
Sign Up to like & getrecommendations! Published in 2019 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2019.05.006
Abstract: OBJECTIVES Branchio-Oto (BO) syndrome is one of the common syndromic forms of hearing loss. In this study, we aimed to characterize the clinical and genetic features of BO syndrome in two Chinese Han deaf families.… read more here.
Keywords: oto syndrome; branchio oto; chinese han; syndrome two ... See more keywords
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