Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications
Alexander O’Brien, Wen Yih Aw, Hui Yi Tee, Kaleb M. Naegeli, Güney Bademci, Mustafa Tekin, Kathleen S. Arnos, Arti Pandya
Topics & Concepts
ProbandHearing lossGeneticsPhenotypeMinigeneExonBiologyMutationGeneMedicineAlternative splicingAudiologyCell Adhesion Molecules ResearchRNA regulation and diseaseConnexins and lens biology