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Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome Cover

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
By: L Spahiu,  B Merovci,  V Ismaili Jaha,  A Batalli Këpuska and  H Jashari  
Open Access
|Dec 2016

Figures & Tables

Auricular pinnae deformity with pre-auricular pit and tag (circled).
Auricular pinnae deformity with pre-auricular pit and tag (circled).
Bilateral branchial fistulae.
Bilateral branchial fistulae.
Bilateral kidney hypoplasia.
Bilateral kidney hypoplasia.
Family pedigree of the patient. Presence or absence of the four main features of BOR syndrome are marked by numbers. 1: Pre-auricular pits; 2: hearing loss; 3: branchial fistulae; 4: renal abnormalities.
Family pedigree of the patient. Presence or absence of the four main features of BOR syndrome are marked by numbers. 1: Pre-auricular pits; 2: hearing loss; 3: branchial fistulae; 4: renal abnormalities.
DOI: https://doi.org/10.1515/bjmg-2016-0042 | Journal eISSN: 2199-5761
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Language: English
Page range: 91 - 94
Published on: Dec 31, 2016
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Branchial fistulae,
Branchi-oto-renal (BOR) syndrome,
Hearing impairment,
Renal insufficiency
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2016 L Spahiu, B Merovci, V Ismaili Jaha, A Batalli Këpuska, H Jashari, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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