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Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation
BACKGROUND: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. The most common gene mutated in BOR patients is EYA1, the human homolog of the Drosophila eyes absent gene, while mutations in SIX1 gene, the human homolog of sine oc...
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| Główni autorzy: | , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BioMed Central
2013
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3610161/ https://ncbi.nlm.nih.gov/pubmed/23506628 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2369-14-60 |
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