Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

Hearing loss is one of the most common sensory disorders in humans. This study proposes a stepwise strategy of deafness gene detection using multiplex PCR combined with high-throughput sequencing, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and whole-exome sequencing...

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Bibliographic Details
Main Authors: Beiping Zeng, Hongen Xu, Yanan Yu, Siqi Li, Yongan Tian, Tiandong Li, Zengguang Yang, Haili Wang, Guangke Wang, Mingxiu Chang, Wenxue Tang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Genetics
Subjects:
hearing loss
deafness
molecular diagnosis
stepwise strategy
GJB2 exon 1
STRC gene
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1057293/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.1057293/full

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