A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

BACKGROUND: Branchio-oto-renal (BOR) syndrome is a dominant autosomal disorder characterized by phenotypes such as hearing loss, branchial fistulae, preauricular pits, and renal abnormalities. EYA1, the human homolog of the Drosophila “eye absent” gene on chromosome 8q13.3, is recognized as one of t...

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Detalles Bibliográficos
Autores principales: Wang, Yan-gong, Sun, Shu-ping, Qiu, Yi-ling, Xing, Qing-he, Lu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081847/
https://www.ncbi.nlm.nih.gov/pubmed/30086703
http://dx.doi.org/10.1186/s12881-018-0653-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081847/
https://www.ncbi.nlm.nih.gov/pubmed/30086703
http://dx.doi.org/10.1186/s12881-018-0653-2

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