A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome
Abstract 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...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMC
2018-08-01
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| Serier: | BMC Medical Genetics |
| Fag: | |
| Online adgang: | http://link.springer.com/article/10.1186/s12881-018-0653-2 |
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