Article
[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene].
Laryngo- rhino- otologie - 1 Dec 2020
Roesch Sebastian, Bernardinelli Emanuele, Wortmann Saskia, Mayr Johannes A, Bader Ingrid, Schweighofer-Zwink Gregor, Rasp Gerd, Dossena Silvia
Abstract excerpt
Due to development of molecular techniques at hand, the number of genomic sequence variants detected in patient investigations is rising constantly. The number of potentially involved genes in hereditary hearing loss is rising simultaneously.In this overview, current methods for diagnostic workup on a molecular and functional level for variants of the SLC26A4 gene are described. Based on the description of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
