Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss

Whole-Exome Sequencing Reveals Pediatric Rare Syndromic Hearing Loss

Objective To discuss the significance of genetic diagnosis of children with syndromic hearing loss by using whole-exome sequencing. Methods The clinical data of 34 children with sensorineural hearing loss were collected and the whole exons of genome of the children and their parents were sequenced a...

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Bibliographic Details
Main Authors: QU Chunyan, ZHOU Yi, CHEN Min, HAO Jinsheng, NI Xin, LIU Haihong
Format: Article
Language:zho
Published: Editorial Office of Journal of Rare Diseases 2022-07-01
Series:罕见病研究
Subjects:
whole-exome sequencing
syndromic hearing loss
hars2
ush2a
gata3
mitf
myo15a
Online Access:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.008

Internet

https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.03.008

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