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A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophila eyes absent gene (EYA1) are the most common cause of...
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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5849624/ https://ncbi.nlm.nih.gov/pubmed/29552445 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2017.01075 |
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