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A novel splice site variant c.1183+1 G>C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese Family

2022-03-30

Abstract excerpt

<h4>Background: </h4> The major clinical manifestation of autosomal dominant nonsyndromic hearing loss (ADNSHL) is bilateral, symmetrical, postlingual progressive sensorineural hearing loss, which begins with impairment at high frequencies and eventually progresses to hearing loss at all frequencies. Autosomal dominant deafness-5 (DFNA5) is a subtype of ADNSHL caused by a heterozygous variant in the gasdermin E (...

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Literature Corpus work
dd864698-fa42-5dba-acb3-3e95062f6c3b
DOI
10.21203/rs.3.rs-1461267/v1
Open publication

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