Genetic hearing impairment : [E-Book] its clinical presentations ; presenting the phenotype of genetic non-syndromic and the most frequent syndromic types of hearing impairment / vol. eds.: Cornelius W. R. J. Cremers; Richard J. H. Smith.
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 deaf...
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Personal Name(s): | Cremers, Cornelius W. R. J.. |
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Basel :
Karger,
2002
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Physical Description: |
Online-Ressource XIV + 248 S. |
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Advances in oto-rhino-laryngology ;
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. 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 audiolo |