Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family-Reference-Cited by-同舟云学术

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Published:2019-02-05 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

An Jinxia,Yang Jie,Wang Yan,Wang Yanxia,Xu Baicheng,Xie Guangmei,Chai Sanming,Liu Xiaoling,Xu Sijuan,Wen Xiaoxiao,He Qing,Liu Huijun,Li Chen,Dey Subrata Kumar,Ni Yali,Banerjee Santasree

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

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3. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.;Borck;Am. J. Hum. Genet.,2011

4. Whole exome sequencing reveals homozygous mutations in RAI1, OTOF, and SLC26A4 genes associated with nonsyndromic hearing loss in altaian families (South Siberia).;Churbanov;PLoS One,2016

5. Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?;D’Adamo;Eur. J. Hum. Genet.,2009

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