U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Branchiootorenal syndrome with cataract

MedGen UID:
865189
•Concept ID:
C4016752
•
Finding
Synonym: BRANCHIOOTORENAL SYNDROME WITH CATARACT
 
OMIM®: 601653

Recent clinical studies

Clinical prediction guides

BOR-syndrome-associated Eya1 mutations lead to enhanced proteasomal degradation of Eya1 protein.
Musharraf A, Kruspe D, Tomasch J, Besenbeck B, Englert C, Landgraf K
PLoS One 2014;9(1):e87407. Epub 2014 Jan 29 doi: 10.1371/journal.pone.0087407. PMID: 24489909Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...