DFNB16 | definition of DFNB16 by Medical dictionary
deafness autosomal recessive type 16 (redirected from DFNB16)
deafness autosomal recessive type 16 An autosomal recessive form (OMIM:603720) of nonsyndromic sensorineural deafness,
Molecular pathology Defects of STRC, which encodes a protein of the sensory hair cells in the inner ear involved with mechanoreception of sound waves, cause deafness autosomal recessive type 16.
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References in periodicals archive
Mutationsina new gene encoding a protein of the hair bundle cause nonsyndromic deafness at the DFNB16 locus.
Dfnb16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
A new locus for non- syndromal, autosomal recessive, sensorineural hearing loss (DFNB16
) maps to human chromosome 15q21- q22.