Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations
Jihen Chouchen, Mona Mahfood, Maryam AlObathani, Walaa Kamal Eddine Ahmad Mohamed, Abdelaziz Tlili
Topics & Concepts
Missense mutationSanger sequencingHearing lossMedicinePhenotypeGeneticsGenotypeMutationDNA sequencingGeneGenetic heterogeneityBiologyAudiologyHearing, Cochlea, Tinnitus, GeneticsGenomics and Rare DiseasesVestibular and auditory disorders