Article
Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2003
Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N
Abstract excerpt
Mutations in the GJB2 (connexin 26-Cx26) gene are responsible for 20-50% of cases with prelingual non-syndromic deafness in a large part of the world including Turkey. Although most of the cases with Cx26 deafness have a recessive mode of inheritance, a small group of families demonstrated domina...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
