Article

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

2024-01-17

Abstract excerpt

<title>Abstract</title> <p>Guidelines recommend <italic>GJB2</italic> (connexin 26) and <italic>GJB6</italic> (connexin 30) testing for bilateral non-syndromic sensorineural hearing loss (SNHL). However, associated audiological phenotypes vary. There is limited Australian data on <italic>GJB2</italic> variant frequency and associated phenotypes. Audiograms from a paediatric cohort with SNHL, predominantly identif...

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Literature Corpus work: 69111905-7a3d-5bc6-a6fb-6027623aa946
DOI: 10.21203/rs.3.rs-3829481/v1

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