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Article
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
Auditory neuropathy is a particular type of hearing impairment in which neural transmission of the auditory signal is impaired, while cochlear outer hair cells remain functional. Here we report on DFNB59, a newly...
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Article
Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)
We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch) with autosomal dominant, non-syndromic hearing loss to...
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Article
Deafness linked to DFNA2: one locus but how many genes?
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Article
Nonsyndromic hearing impairment is associated with a mutation in DFNA5
Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 loci mapped on the human genome1, however, only a limited number of genes implicated in hearing loss have ...
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Article
Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial ...
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Article
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
MASA syndrome is a recessive X–linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X–linked hydrocephal...
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Article
A duplication in the L1CAM gene associated with X–linked hydrocephalus
Recently, a mutation in the gene for the neural cell adhesion molecule L1CAM, located at chromosome Xq28, was found in a family with X–linked hydrocephalus (HSAS). However, as the L1CAM mutation could only be ide...