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Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
Open Access
Case report of a novel mutation of the
EYA1
gene in a patient with branchio-oto-renal syndrome
L Spahiu
L Spahiu
,
B Merovci
B Merovci
,
V Ismaili Jaha
V Ismaili Jaha
,
A Batalli Këpuska
A Batalli Këpuska
and
H Jashari
H Jashari
| Dec 31, 2016
Balkan Journal of Medical Genetics
Volume 19 (2016): Issue 2 (December 2016)
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Article Category:
Case Report
Published Online:
Dec 31, 2016
Page range:
91 - 94
DOI:
https://doi.org/10.1515/bjmg-2016-0042
Keywords
Branchial fistulae
,
Branchi-oto-renal (BOR) syndrome
,
Hearing impairment
,
Renal insufficiency
© 2016 Spahiu L, Merovci B, Ismaili Jaha V, Batalli Këpuska A, Jashari H
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.