TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree

TJP2 Gene Mutation c.G1012A May Responsible for Congenital Hearing Loss with Incomplete Penetrance in An Iranian Pedigree

Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male...

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Bibliographic Details
Main Authors: Sadegh Rajabi, Romina Dastmalchi, Mohammad Hossein Dehghan, Ali Eftekharian, Elmira Aghazadeh, Sayyed Mohammad Hossein Ghaderian
Format: Article
Language:English
Published: University of Mazandaran 2019-07-01
Series:Journal of Genetic Resources
Subjects:
hereditary hearing loss
missense mutation
incomplete penetrance
tjp2
Online Access:http://sc.journals.umz.ac.ir/article_2423_1c315d1cec69834d21e7b95aa8464c0a.pdf

Internet

http://sc.journals.umz.ac.ir/article_2423_1c315d1cec69834d21e7b95aa8464c0a.pdf

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