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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sciendo
2016-12-01
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| Series: | Balkan Journal of Medical Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/bjmg-2016-0042 |