Article
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.
Human genetics - 1 Feb 2003
de Brouwer Arjan P M, Pennings Ronald J E, Roeters Marjolijn, Van Hauwe Peter, Astuto Lisa M, Hoefsloot Lies H, Huygen Patrick L M, van den Helm Bellinda, Deutman August F, Bork Julie M, Kimberling William J, Cremers Frans P M, Cremers Cor W R J, Kremer Hannie
Abstract excerpt
We have ascertained a multi-generation family with apparent autosomal recessive non-syndromic childhood hearing loss (DFNB). Failure to demonstrate linkage in a genome-wide scan with 300 polymorphic markers has suggested genetic heterogeneity for the hearing loss in this family. This heterogeneity could be demonstrated by analysis of candidate loci and genes for DFNB. Patients in one branch of the family (branch...
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