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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...
में बचाया:
| में प्रकाशित: | BMC Med Genet |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BioMed Central
2018
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| विषय: | |
| ऑनलाइन पहुंच: | 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 |
| टैग : |
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