Book chapter
Otosclerosis
Medical Genetics in the Clinical Practice of ORL, pp.122-129
Advances in Oto-Rhino-Laryngology, S. Karger AG
03/2011
DOI: 10.1159/000322488
PMID: 21358194
Abstract
Otosclerosis is one of the more common forms of adultonset hearing loss with a prevalence of 0.3–0.4% in Caucasians. It is typically characterized by a conductive hearing loss due to labyrinthine endochondral sclerosis that upon stapedio-vestibular joint invasion results in loss of free motion of the stapes. Its etiology remains poorly understood with both environmental factors and genetic causes implicated in its development. Several environmental influences have been studied and numerous genomic loci have been mapped in families segregating autosomal-dominant otosclerosis. Population-based studies have also identified associations with several genes. These advances are improving our understanding of this complex disease.
Details
- Title: Subtitle
- Otosclerosis
- Creators
- Megan Ealy - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, Iowa, USARichard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, Iowa, USA
- Contributors
- R.L Alford (Editor)V.R Sutton (Editor)
- Resource Type
- Book chapter
- Publication Details
- Medical Genetics in the Clinical Practice of ORL, pp.122-129
- Series
- Advances in Oto-Rhino-Laryngology
- DOI
- 10.1159/000322488
- PMID
- 21358194
- NLM abbreviation
- Adv Otorhinolaryngol
- eISSN
- 1662-2847
- ISSN
- 0065-3071
- Publisher
- S. Karger AG; Basel, Switzerland
- Number of pages
- 8
- Language
- English
- Date published
- 03/2011
- 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
- 9984006305502771
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