A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report

Abstract Background Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family. Case presentation The proband with profound hearing loss had received a...

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Bibliographic Details
Main Authors: Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang, Shayan Wang
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Medical Genetics
Subjects:
Hearing loss
DFNB3
MYO15A
Nonsense mutation
Online Access:http://link.springer.com/article/10.1186/s12881-018-0657-y

Internet

http://link.springer.com/article/10.1186/s12881-018-0657-y

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