Case Report: First Report of Mutation in Col 11A2 Gene in an Iranian Family with Autosomal Rrecessive Non-Syndromic Hearing Loss

• Autori principali: Kimia Kahrizi (Autore), Ahmad Daneshi (Autore), Yasser Riaz-el Hosseini (Autore), Carla Nishimora (Autore), Richard Smith (Autore), Hossein Najm-Abadi (Autore)
• Natura: Libro
• Pubblicazione: University of Social Welfare and Rehabilitation Sciences, 2003-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Hereditary Hearing loss (HHL) affects one in 2000 netborns and more than 50% of these cases, the loss has a genetic basis. About 70% of HHL is non-syndromic with autosomal recessive mode of inheritance accounting for ~85% of the genetic load and more than hundred loci have been estimated for this ki...