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Deafness
Book chapter

Deafness

Richard J. H Smith and Guy Van Camp
Molecular Pathology in Clinical Practice, pp.125-133
Springer New York
2007
DOI: 10.1007/978-0-387-33227-7_11

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Abstract

Recent advances in the molecular biology of hearing and deafness are being transferred from the research laboratory to the clinical arena. This transfer of knowledge is enhancing patient care by facilitating the diagnosis of hereditary deafness. Traditionally, hereditary deafness has been distinguished from nongenetic causes of deafness by otologic, audiologic, and physical examinations, complemented by a family history and ancillary tests such as temporal bone computed tomography, urinalysis, thyroid function studies, ophthalmoscopy, and electrocardiography. Even using this test battery, an unequivocal distinction between genetic and nongenetic causes of deafness often is difficult. If comorbid conditions are identified, the deafness may fall into one of more than 400 recognized types of syndromic hearing loss, but if hearing loss segregates as the only abnormality, diagnosing the deafness as nonsyndromic and inherited is challenging.1
Denature High Performance Liquid Chromatography Hearing Loss Mutation Screening Nonsyndromic Hearing Loss Wolfram Syndrome

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