Genetic hearing impairment: its clinical presentations

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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Weitere Verfasser: Cremers, Cornelius W. R. J. 1945- (HerausgeberIn), Smith, Richard J. H. (HerausgeberIn)
Format: Elektronisch E-Book
Sprache:English
Veröffentlicht: Basel Karger 2002
Schriftenreihe:Advances in oto-rhino-laryngology Vol. 61
Schlagworte:
Online-Zugang:BFB01
BSB01
BTW01
EUV01
FAN01
FAW01
FFW01
FHI01
FHM01
FHN01
FHR01
FKE01
FNU01
FWS01
FWS02
GEM01
LCO01
SAB01
SAM01
SBG01
SBR01
SND01
TUM01
UBA01
UBG01
UBM01
UBR01
UBT01
UBW01
UER01
UPA01
Volltext
Zusammenfassung: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
Beschreibung:presenting the phenotype of genetic non-syndromic and the most frequent syndromic types of hearing impairment
Beschreibung:1 Online-Ressource (XIV, 248 Seiten) Illustrationen, Diagramme
ISBN:9783318008708