Article
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
Human genetics - 1 Mar 2001
Janecke A R, Nekahm D, Löffler J, Hirst-Stadlmann A, Müller T, Utermann G
Abstract excerpt
Mutations of the connexin 26 (Cx26) gene cause isolated recessive or dominant hearing loss or both sensorineural hearing impairment and keratoderma. We have identified the first de novo mutation of the Cx26 gene, R75 W, in a sporadic case of isolated profound hearing loss. R75 W has been previously observed in association with hearing impairment and keratoderma in one family and is thus thought to cause both...
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