Article
A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
European journal of human genetics : EJHG - 1 Mar 2001
Bönsch D, Scheer P, Neumann C, Lang-Roth R, Seifert E, Storch P, Weiller C, Lamprecht-Dinnesen A, Deufel T
Abstract excerpt
Investigating a large German pedigree with non-syndromic hearing impairment of early onset and autosomal dominant mode of inheritance, linkage to known DFNA loci was excluded and in a subsequent genomic scan the phenotype was mapped to a 10-cM interval on chromosome 3q22; a maximum two-point lod score of 3.77 was obtained for the marker D3S1292. The new locus, DFNA18, is excluded from neighbouring deafness loci,...
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