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Title: Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference
Author(s): Oonk, A.M.; Huygen, P.L. ; Kunst, H.P. ; Kremer, H. ; Pennings, R.J.
Publication year: 2016
Source: ClinicalOTOLARYNGOLOGY, vol. 41, iss. 5, (2016), pp. 487-497
ISSN: 1749-4478
DOI: http://dx.doi.org/10.1111/coa.12567
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/165635   http://hdl.handle.net/2066/165635

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Subject: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience
Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Organization: Otorhinolaryngology
Human Genetics
Journal title:
Clinical Otolaryngology
Volume: vol. 41
Issue: iss. 5
Page start: p. 487
Page end: p. 497
Abstract:
OBJECTIVE: Non-syndromic sensorineural hearing impairment is inherited in an autosomal recessive fashion in 75-85% of cases. To date, 61 genes with this type of inheritance have been identified as related to hearing impairment, and the genetic heterogeneity is accompanied by a large variety of clinical characteristics. Adequate counselling on a patient's hearing prognosis and rehabilitation is part of the diagnosis on the genetic cause of hearing impairment and, in addition, is important for the psychological well-being of the patient. TYPE OF REVIEW: Traditional literature review. DATA SOURCE: All articles describing clinical characteristics of the audiovestibular phenotypes of identified genes and related loci have been reviewed. CONCLUSION: This review aims to serve as a summary and a reference for counselling purposes when a causative gene has been identified in a patient with a non-syndromic autosomal recessively inherited sensorineural hearing impairment.

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