DFNB10

DFNB10

Abbreviation for:
deafness autosomal recessive type 10
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In the Dutch family, the c.323-6G>A mutation was (relatively) severe and homozygous mutation results in prelingual (DFNB10) hearing impairment.
Compound heterozygosity for a mild and severe mutation leads to postlingual hearing loss (DFNB8), whereas the combination of two severe mutations leads to profound hearing impairment with prelingual onset (DFNB10) [4].
Mutations in TMPRSS3 have previously been described to cause autosomal recessive progressive hearing impairment with postlingual onset (DFNB8) as well as severe-to-profound prelingual hearing impairment (DFNB10).