Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02365-1
Abstract: Structural variation includes a change in copy number, orientation, or location of a part of the genome. Copy number variants (CNVs) are a common cause of genetic hearing loss, comprising nearly 20% of diagnosed cases.… read more here.
Keywords: hearing loss; copy number; genetic hearing; cnvs ... See more keywords
Genetic Hearing Loss Affects Cochlear Processing
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13111923
Abstract: The relationship between speech recognition and hereditary hearing loss is not straightforward. Underlying genetic defects might determine an impaired cochlear processing of sound. We obtained data from nine groups of patients with a specific type… read more here.
Keywords: speech recognition; genetic hearing; hearing loss; cochlear processing ... See more keywords