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Branchio-Oto-Renal Syndrome

Known as: Syndrome, BOR, Syndrome, Branchio-Oto-Renal, Branchio-Otorenal Dysplasia 
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing… 
National Institutes of Health

Related topics

Related topics

24 relations
Autosomal dominant inheritanceBifid uvulaBranchio-Oculo-Facial SyndromeBranchiogenic syndrome

Narrower (5)

BRANCHIOOTIC SYNDROME 1BRANCHIOOTIC SYNDROME 3 (disorder)Bor-Duane hydrocephalus contiguous gene syndromeBranchiootic Syndrome 2

Papers overview

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Highly Cited
2007
Highly Cited
2007
Transport and regulatory characteristics of the yeast bicarbonate transporter homolog Bor1p.
The functional properties of the Saccharomyces cerevisiae bicarbonate transporter homolog Bor1p (YNL275wp) were characterized by… 
2005
2005
Using Drosophila to Decipher How Mutations Associated With Human Branchio-Oto-Renal Syndrome and Optical Defects Compromise the Protein Tyrosine Phosphatase and Transcriptional Functions of Eyes…
Eyes absent (EYA) proteins are defined by a conserved C-terminal EYA domain (ED) that both contributes to its function as a… 
Review
1999
Review
1999
Bilateral congenital cholesteatoma in branchio-oto-renal syndrome
Abstract Branchio-oto-renal syndrome is a rare autosomal dominant condition characterized by hearing loss, branchial arch… 
1999
1999
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family
AbstractAdvances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto… 
Highly Cited
1997
Highly Cited
1997
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
We describe a syndrome of midface hypoplasia, non-progressive sensorineural deafness and epiphyseal dysplasia in 3 sibs born to… 
1990
1990
Dominant branchial cleft syndrome with characteristics of both branchio‐oto‐renal and branchio‐oculo‐facial syndrome
A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio‐oto‐renal and the… 
Highly Cited
1989
Highly Cited
1989
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.
Here we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.11q13.3q21.13). Individuals with the… 
1988
1988
The branchio-oto-renal syndrome
Summary The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial… 
1983
1983
Renal disorders in the branchio-oto-renal syndrome.
Intravenous urography and measurements of renal function were performed in 16 patients suffering from branchio-oto-renal syndrome… 
1982
1982
The branchio-oto-renal syndrome.
The major features of the branchio-oto-renal syndrome are branchial remnants, ear anomalies and renal dysplasia. Investigation of… 
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