Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome

Branchio-oto-renal spectrum disorder (BORSD) is characterized by hearing loss accompanied by ear malformations, branchial cysts, and fistulae, with (branchio-oto-renal syndrome (BORS)) or without renal abnormalities (BOS (branchio-otic syndrome)). As the most common causative gene for BORSD, dominan...

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Detalles Bibliográficos
Autores principales: Zheng, Hao, Xu, Jun, Wang, Yu, Lin, Yun, Hu, Qingqiang, Li, Xing, Chu, Jiusheng, Sun, Changling, Chai, Yongchuan, Pang, Xiuhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8046558/
https://www.ncbi.nlm.nih.gov/pubmed/33880118
http://dx.doi.org/10.1155/2021/5524381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8046558/
https://www.ncbi.nlm.nih.gov/pubmed/33880118
http://dx.doi.org/10.1155/2021/5524381

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