Book chapter
Deafness
Molecular Pathology in Clinical Practice, pp.197-201
Springer International Publishing
01/01/2016
DOI: 10.1007/978-3-319-19674-9_14
Abstract
Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons multi-gene screening panels have been adopted. While these methods make comprehensive genetic testing possible, interpretation of the many variants is difficult, specifically, differentiating novel benign variants from novel deafness-causing variants. This chapter describes methods for the genetic diagnosis of deafness with particular attention to multi-gene screening panels.
Details
- Title: Subtitle
- Deafness
- Creators
- A. Eliot Shearer - University of IowaRobert W Eppsteiner - Department of Otolaryngology – Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, USARichard J. H Smith - Department of Otolaryngology – Head & Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, USA
- Resource Type
- Book chapter
- Publication Details
- Molecular Pathology in Clinical Practice, pp.197-201
- DOI
- 10.1007/978-3-319-19674-9_14
- Publisher
- Springer International Publishing; Cham
- Language
- English
- Date published
- 01/01/2016
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984256931002771
Metrics
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