Format:
1 Online-Ressource (XIV, 248 Seiten)
,
Illustrationen, Diagramme
ISBN:
9783318008708
Series Statement:
Advances in oto-rhino-laryngology Vol. 61
Content:
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
Note:
presenting the phenotype of genetic non-syndromic and the most frequent syndromic types of hearing impairment
Additional Edition:
Erscheint auch als Druck-Ausgabe ISBN 978-3-8055-7449-5
Language:
English
Subjects:
Medicine
Keywords:
Hörschädigung
;
Erbkrankheit
;
Aufsatzsammlung
DOI:
10.1159/isbn.978-3-318-00870-8
Author information:
Cremers, Cornelius W. R. J. 1945-
