A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss-Reference-Cited by-同舟云学术

A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss

Published:2022-09-07 Issue:11 Volume:30 Page:1301-1305
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Robles-Bolivar Paula^ORCID,Bächinger David,Parra-Perez Alberto M.^ORCID,Román-Naranjo Pablo,Escalera-Balsera Alba^ORCID,Gallego-Martinez Alvaro^ORCID,Eckhard Andreas H.,Lopez-Escamez Jose A.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01184-w.pdf

Reference20 articles.

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2. Parving A, Sakihara Y, Christensen B. Inherited sensorineural low-frequency hearing impairment: some aspects of phenotype and epidemiology. Int J Audio. 2000;39:50–60.

3. Bramhall NF, Kallman JC, Verrall AM, Street VA. A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings. BMC Med Genet. 2008;9:48.

4. Oishi N, Inoue Y, Saito H, Kanzaki S, Kanzaki J, Ogawa K. Long-term prognosis of low-frequency hearing loss and predictive factors for the 10-year outcome. Otolaryngol Neck Surg. 2010;142:565–9.

5. Perez-Carpena P, Lopez-Escamez JA. Current understanding and clinical management of Meniere’s disease: a systematic review. Semin Neurol. 2020;40:138–50.

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