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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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| Publicado no: | BMC Med Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6081847/ https://ncbi.nlm.nih.gov/pubmed/30086703 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0653-2 |
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