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Case Report of a Novel Mutation of the EYA1 Gene in a Patient with Branchio-oto-renal Syndrome
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected fa...
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| Publicado no: | Balkan J Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
De Gruyter
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5343337/ https://ncbi.nlm.nih.gov/pubmed/28289595 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2016-0042 |
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