| Description |
1 online resource (xiv, 248 pages) : illustrations |
| Series |
Advances in oto-rhino-laryngology, 0065-3071 ; v. 61 |
|
Advances in oto-rhino-laryngology ; v. 61. 0065-3071
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| Summary |
A decade of innovative findings in the research of molecular biology of hearing and deafness is reflected in this volume. The genetic causes for many types of syndromic and non-syndromic deafness are identified and genotypic-phenotypic relationships are explored. Although the type and degree of deafness caused by mutations in different genes significantly overlap, relatively unique age-related audiometric profiles are also emerging. For example, the audioprofile of DFNA1 and DFNA6-14 is a low-frequency sensorineural hearing loss; with DFNA8-14 it is a mid-frequency sensorineural hearing loss, and with DFNA2, DFNA5 and DFNA20-26 it is a high-frequency progressive hearing loss. Recognizing such audioprofiles can facilitate well-guided decision-making in clinical practice and can direct genetic testing for deafness. With an accurate genetic diagnosis, prognostic information can be provided to patients and their families. In the future, gene-specific habilitation options may also become available. To keep up to date with new clinical standards of diagnosing genetic hearing impairment, this book is indispensable reading to otorhinolaryngologists and audiologists |
| Bibliography |
Includes bibliographical references and indexes |
| Subject |
Deafness -- Genetic aspects.
|
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Ear -- Abnormalities -- Genetic aspects
|
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Hearing Disorders -- genetics
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Deafness -- Genetic aspects
|
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Ear -- Abnormalities -- Genetic aspects
|
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Hörschädigung -- Erbkrankheit -- Aufsatzsammlung.
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Erbkrankheit -- Hörschädigung -- Aufsatzsammlung.
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| Form |
Electronic book
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| Author |
Cremers, C. W. R. J. (Cornelius Wilhelmus Radboud Jozef), 1945-
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|
Smith, R. (Richard)
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|
S. Karger (Firm)
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| ISBN |
9783318008708 |
|
3318008702 |
|
