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About Genetic Hearing Impairment: Its Clinical Presentations (Advances in Otorhinolaryngology, Vol. 61)
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.
Detailed Information
| Author: | C.W.R.J., Ed. Cremers |
|---|---|
| Publication Year: | 2002 |
| ISBN: | 9783318008708 |
| Pages: | 263 |
| Language: | English |
| File Size: | 4.33 |
| Format: | |
| Price: | FREE |
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