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

Published in:	罕见病研究
Main Authors:	QU Chunyan, ZHOU Yi, CHEN Min, HAO Jinsheng, NI Xin, LIU Haihong
Format:	Article
Language:	Chinese
Published:	Editorial Office of Journal of Rare Diseases 2022-07-01
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