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Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss

✍ Scribed by Alessandro Terrinoni; Andrea Codispoti; Valeria Serra; Ernesto Bruno; Biagio Didona; Mauro Paradisi; Steven Nisticò; Elena Campione; Bianca Napolitano; Laura Diluvio; Gerry Melino

Book ID
116300079
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
602 KB
Volume
395
Category
Article
ISSN
0006-291X

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📜 SIMILAR VOLUMES

Clinical phenotype and mutations in conn
Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss
✍ Cohn, Edward S.; Kelley, Philip M. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 2 views

Mutations in the gene for connexin 26, GJB2, are the most common cause of hearing loss in American and European populations, with a carrier rate of about 3%-a rate similar to that for cystic fibrosis. A single mutation, 35delG, is responsible for most of this autosomal recessive hearing loss, DFNB1.