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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: ,  ,  ,   and    
Open Access
|Dec 2016
Figures & tables

Figures & Tables

Auricular pinnae deformity with pre-auricular pit and tag (circled).

Bilateral branchial fistulae.

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.

DOI: https://doi.org/10.1515/bjmg-2016-0042 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
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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
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.

Volume 19 (2016): Issue 2 (December 2016)
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