Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8794

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss ; volume:15 ; number:1 ; day:16 ; month:5 ; year:2022 ; pages:1-12 ; date:12.2022
BMC medical genomics ; 15, Heft 1 (16.5.2022), 1-12, 12.2022

Creator: Zhang, Weixun
Song, Jing
Tong, Busheng
Ma, Mengye
Guo, Luo
Yuan, Yasheng
Yang, Juanmei

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-022-01269-x

URN: urn:nbn:de:101:1-2022072022232400760209

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:36 AM CEST

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Zhang, Weixun
Song, Jing
Tong, Busheng
Ma, Mengye
Guo, Luo
Yuan, Yasheng
Yang, Juanmei
SpringerLink (Online service)

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Identification of a novel CNV at the EYA4 gene in a Chinese family with autosomal dominant nonsyndromic hearing loss

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Other Objects (12)

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A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family

ATP11A causes autosomal-dominant progressive, non-syndromic auditory synaptopathy / auditory neuropathy

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

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A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

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A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss

A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

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PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

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A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana

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A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family

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A novel splice-altering TNC variant (c.5247A > T, p.Gly1749Gly) in an Chinese family with autosomal dominant non-syndromic hearing loss

A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family

PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

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