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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Detalles Bibliográficos
Autores principales: Spahiu, L, Merovci, B, Ismaili Jaha, V, Batalli Këpuska, A, Jashari, H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Case Report
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

Internet

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

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