Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation

Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation

ObjectiveTo report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes.MethodsMutation screening of GJB2 was performed on all ascertained members from Family 1006983 a...

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Bibliographic Details
Main Authors: Hongyang Wang, Yun Gao, Jing Guan, Lan Lan, Ju Yang, Wenping Xiong, Cui Zhao, Linyi Xie, Lan Yu, Dayong Wang, Qiuju Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
GJB2
Connexin30
modifier
heterogeneity
hearing loss
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.647240/full

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https://www.frontiersin.org/articles/10.3389/fcell.2021.647240/full

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