Article

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

2014-03-07

Abstract excerpt

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 suspected to be affected with these conditions often fails to identify two mutations. We investigated the potential con...

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Literature Corpus work: 97b293e5-5090-51ac-849c-2e6719662000
DOI: 10.7287/peerj.preprints.275v1

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