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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
De Gruyter
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343337/ https://www.ncbi.nlm.nih.gov/pubmed/28289595 http://dx.doi.org/10.1515/bjmg-2016-0042 |