A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family

Abstract Background The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1....

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Bibliographic Details
Main Authors: Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang, Fengchan Han
Format: Article
Language:English
Published: BMC 2020-06-01
Series:BMC Medical Genetics
Subjects:
TRIOBP
DFNB28
Mutation
Hearing loss
Online Access:http://link.springer.com/article/10.1186/s12881-020-01055-5

Internet

http://link.springer.com/article/10.1186/s12881-020-01055-5

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