Publication year
2014Source
Clinical Genetics, 85, 6, (2014), pp. 514-523ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Otorhinolaryngology
Journal title
Clinical Genetics
Volume
vol. 85
Issue
iss. 6
Page start
p. 514
Page end
p. 523
Subject
Radboudumc 12: Sensory disorders RIHS: Radboud Institute for Health Sciences; Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life SciencesAbstract
Hearing impairment is an extremely heterogeneous disorder, with both environmental as well as genetic causes. This review describes the known genes involved in non-syndromic hearing impairment and their genotype-phenotype correlations where possible. Furthermore, some of the more frequent syndromic forms of hearing impairment are described, in particular where they overlap with the non-syndromic forms. Given the heterogeneity of the disorder, together with the indistinguishable phenotypes for many of the genes, it is suggested that testing for mutations is performed using massive parallel sequencing techniques, either by a large targeted set of genes or by an exome wide analysis.
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- Faculty of Medical Sciences [81051]
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