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Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novelEYA1splice site mutation

✍ Scribed by Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno…


Book ID
120679422
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
454 KB
Volume
14
Category
Article
ISSN
1471-2369

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## Communicated by Peter Humphries Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.