The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

• Main Authors: Gi-Sung Nam (Author), John Hoon Rim (Author), Jae Young Choi (Author), Heon Yung Gee (Author), Jong Rak Choi (Author), Seung-Tae Lee (Author), Jinsei Jung (Author)
• Formato: Livro
• Publicado em: BMC, 2019-04-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its e...