Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

Abstract Objective Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or...

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Bibliographic Details
Main Authors: Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Medical Genomics
Subjects:
EYA1 gene
Branchio-oto-renal syndrome
Whole-exome sequencing
Online Access:https://doi.org/10.1186/s12920-024-01858-y

Internet

https://doi.org/10.1186/s12920-024-01858-y

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