Article

Unravelling the genetic bases of hearing loss : functional characterisation of pathogenic variants and novel candidate genes identified by whole-exome sequencing

2019-01-01

Abstract excerpt

Hearing Loss (HL) is the most common sensory disorder in humans, and more than half of cases are due to genetic factors. In 30% of cases, hereditary HL is associated with additional clinical features, and it is defined syndromic (SHL), whereas in 70% of cases HL is the only symptom, and it is considered nonsyndromic (NSHL). HL is characterised by an extreme genetic heterogeneity, with more than 150 loci currently...

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Literature Corpus work: 034f3b55-9b4c-55ea-89f6-0c2189024884
DOI: 10.21954/ou.ro.0000f1eb

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