deafness—autosomal dominant 39 with dentinogenesis imperfecta 1

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deafness—autosomal dominant 39 with dentinogenesis imperfecta 12016-11-25T13:31:30+00:00

deafness—autosomal dominant 39 with dentinogenesis imperfecta 1

AUDIOLOGY, CELL BIOLOGY, ENT

Definition An autosomal dominant disorder (OMIM:605594) characterised by progressive sensorineural high-frequency hearing loss and dentinogenesis imperfecta.

Molecular pathology Defects of DSPP, which encodes a protein of the dentin extracellular matrix that is secreted by odontoblasts and may play a role in dentin biomineralisation, cause deafness—autosomal dominant 39 with dentinogenesis imperfecta 1. 

Synonyms DFNA39/dentinogenesis imperfecta 1 syndrome, DFNA39/DGI1 syndrome, DGI1/DFNA39 syndrome

References http://www.uniprot.org/uniprot/Q9NZW4

http://www.omim.org/entry/605594

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