title: Genetics of Hearing Loss: Syndromic.
abstract: Hearing loss (HL) is one of the most common birth defects in developed countries and is a diverse pathologic condition with different classifications. One of these is based on the association with other clinical features, defined as syndromic hearing loss (SHL). Determining the cause of the HL in these patients is extremely beneficial as it enables a personalized approach to caring for the individual. Early screening can further aid in optimal rehabilitation for a child's development and growth. The advancement of high-throughput sequencing technology is facilitating rapid and low-cost diagnostics for patients with SHL.
authors.affiliation: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.
authors.forename: Tal
authors.initials: T
authors.lastname: Koffler
authors.affiliation: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.
authors.forename: Kathy
authors.initials: K
authors.lastname: Ushakov
authors.affiliation: Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address: karena@post.tau.ac.il.
authors.forename: Karen B
authors.initials: KB
authors.lastname: Avraham
mesh_terms: D015415:Biomarkers / Q000032:analysis*; D002648:Child; D042241:Early Diagnosis; D008040:Genetic Linkage; D006044:Goiter, Nodular / Q000175:diagnosis / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D052245:Usher Syndromes / Q000175:diagnosis / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D015415:Biomarkers
keywords: Deafness; Genetics; Genome; Hearing loss; Sequencing