Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss

Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions and splice sites of SLC26A4 in individuals su...

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Bibliographic Details
Main Authors: Lynn M. Pique, Marie-Luise Brennan, Colin J. Davidson, Frederick Schaefer, John Greinwald Jr, Iris Schrijver
Format: Article
Language:English
Published: PeerJ Inc. 2014-05-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/384.pdf