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BioScience Trends, ISSN 1881-7815, 2018
The current study retrospectively investigated variations in audiological phenotypes in children with GJB2 gene mutations. Subjects were 128 infants and young... 
GJB2 gene | screening | Genotype
Journal Article
BMC Genetics, ISSN 1471-2156, 02/2016, Volume 17, Issue 1, p. 45
Journal Article
Connexin 26 and autosomal recessive non-syndromic hearing loss, 07/2003
Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60%... 
hg03010 Non-syndromic, Hearing loss, Autosomal recessive, Connexin 26, DFNB1, mutation detection, Gap junction proteins, GJB2 | Genetics
Journal
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 04/2018, Volume 107, pp. 121 - 126
Hereditary hearing loss (HL) is a noticeable concern in medicine all over the world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which... 
GJB2 | Iran | Autosomal recessive non-syndromic hearing loss | c.35delG | CONNEXIN-26 GJB2 | PREVALENCE | IMPAIRMENT | NORTH | CX26 GENE-MUTATIONS | FAMILIES | OTORHINOLARYNGOLOGY | FREQUENCY | PEDIATRICS | DEAFNESS | FOUNDER
Journal Article
01/2010
Background : The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive... 
Connexin 26 | GJB2 | Iranian Arabs | nonsyndromic autosomal recessive deafness
Web Resource
Vestnik Otorinolaringologii, ISSN 0042-4668, 2018, Volume 83, Issue 4, pp. 31 - 36
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 12/2019, Volume 127, p. 109653
Several forms of sensorineural hearing loss (SNHL) have been imputated to connexins mutations and prevalently to connexin 26 (Cx26), codified by the GJB2 gene... 
Connexin 26 | p.G130V | Skin diseases | GJB2 | Hearing loss
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 11/2019, Volume 126, p. 109607
Mutations in the gene encoding connexin 26 (Cx26) cause autosomal recessive and rarely dominant nonsyndromic sensorineural hearing loss as well as asyndromic... 
GJB2 | Nonsyndromic hearing loss | Palmoplantar keratoderma | De novo
Journal Article
CORNEA, ISSN 0277-3740, 02/2018, Volume 37, Issue 2, pp. 252 - 254
Purpose: The aim of this study was to describe a case of severe keratitis-ichthyosis-deafness (KID) syndrome with ocular surface squamous neoplasia. Methods:... 
GJB2 | ocular surface squamous neoplasia | KID | OPHTHALMOLOGY | KERATITIS | KID syndrome
Journal Article
NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 05/2006, Volume 354, Issue 20, pp. 2151 - 2164
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2007, Volume 9, Issue 7, pp. 413 - 426
Journal Article
Otolaryngologia Polska, ISSN 0030-6657, 2016, Volume 70, Issue 3, pp. 21 - 25
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 12/2018, Volume 35, Issue 6, pp. 864 - 867
Journal Article
Genetic Testing and Molecular Biomarkers, ISSN 1945-0265, 01/2019, Volume 23, Issue 1, pp. 51 - 56
Background: Hearing impairment is one of the most common neurosensory disorders afflicting humans. Approximately half of all cases have a genetic etiology. The... 
nonsyndromic hearing loss | pathogenic mutations | GJB2 | SLC26A4 | 26 GENE GJB2 | CONNEXIN-26 MUTATIONS | GENETICS & HEREDITY | DEAFNESS | PREVALENCE
Journal Article
by Zhou, XX and Chen, S and Xie, L and Ji, YZ and Wu, X and Wang, WW and Yang, Q and Yu, JT and Sun, Y and Lin, X and Kong, WJ
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1422-0067, 03/2016, Volume 17, Issue 3, pp. 301 - 301
Connexin26 (Cx26, encoded by GJB2) mutations are the most common cause of non-syndromic deafness. GJB2 is thought to be involved in noise-induced hearing loss... 
CELLS | HEREDITARY DEAFNESS | INNER-EAR | BIOCHEMISTRY & MOLECULAR BIOLOGY | GLUCOSE-TRANSPORT | CHEMISTRY, MULTIDISCIPLINARY | Connexin26 | GJB2 | GAP-JUNCTIONS | GJB2 DEFICIENCY | CELLULAR DEGENERATION | noise-induced hearing loss | POSTNATAL-DEVELOPMENT | MUTATIONS | RAT COCHLEA
Journal Article
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