branchiootorenal syndrome 2

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branchiootorenal syndrome 22016-11-24T22:09:45+00:00

branchiootorenal syndrome 2

GENETICS

Definition A disorder (OMIM:610896) characterised by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

Molecular pathology Defects of SIX5, which encodes a transcription factor that regulates organogenesis, and may play a role in forming and maintaining the retina, cause branchiootorenal syndrome 2.

References http://www.uniprot.org/uniprot/Q8N196

http://www.omim.org/entry/610896 

 

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