We have collected the most relevant information on Audiological Features Gjb2 Connexin 26 Deafness. Open the URLs, which are collected below, and you will find all the info you are interested in.
Prevalence and audiological features in carriers of GJB2 ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449272/#:~:text=The%20human%20gap%20junction%20%CE%B2-2%20gene%20%28GJB2%29%20that,of%20autosomal-recessive%20non-syndromic%20sensorineural%20hearing%20loss%20%28NSSNHL%29%20worldwide.
Audiological features of GJB2 (connexin 26) deafness
https://pubmed.ncbi.nlm.nih.gov/15937416/
Design: We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene (GJB2) by sequence analysis. A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous mutations) (GJB2 deafness). Using the audiological classification criteria of genetic deafness proposed by the …
Audiological Features of GJB2 (Connexin 26) Deafness : …
https://journals.lww.com/ear-hearing/Abstract/2005/06000/Audiological_Features_of_GJB2__Connexin_26_.11.aspx
Audiological Features of GJB2 (Connexin 26) Deafness Objective:. Design:. We screened DNA from 399 individuals with nonsyndromic deafness for mutations in the connexin 26 gene ( GJB2)... Results:. All categories of hearing loss severity were found, with significant differences in the findings from ...
Audiological features of GJB2 (Connexin 26) deafness ...
https://miami.pure.elsevier.com/en/publications/audiological-features-of-gjb2-connexin-26-deafness
Audiological features of GJB2 (connexin 26) deafness ...
https://europepmc.org/article/MED/15937416
A total of 77 (19%) of these deaf individuals were biallelic GJB2 mutations (either homozygous or compound heterozygous mutations) (GJB2 deafness). Using the audiological classification criteria of genetic deafness proposed by the European Workshop on Genetic Hearing Loss, we analyzed audiograms of these patients to characterize audiological features …
Audiologic Phenotype and Progression in GJB2 …
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528189/
However, it is now well recognized that GJB2 hearing loss ranges from mild to profound, 1 with some cases demonstrating incomplete penetrance or delayed onset of hearing loss. 8–11 In addition, some mutations, including M34T and V37I, seem to be associated with a milder audiologic phenotype than others. 1,10,12,13 Although there have been some reports of …
Now you know Audiological Features Gjb2 Connexin 26 Deafness
Now that you know Audiological Features Gjb2 Connexin 26 Deafness, we suggest that you familiarize yourself with information on similar questions.
