
Fulltext:
165635.pdf
Embargo:
until further notice
Size:
279.1Kb
Format:
PDF
Description:
publisher's version
Publication year
2016Source
Clinical Otolaryngology, 41, 5, (2016), pp. 487-497ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Otorhinolaryngology
Human Genetics
Journal title
Clinical Otolaryngology
Volume
vol. 41
Issue
iss. 5
Page start
p. 487
Page end
p. 497
Subject
Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health SciencesAbstract
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.
This item appears in the following Collection(s)
- Academic publications [205104]
- Electronic publications [103316]
- Faculty of Medical Sciences [81055]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.