Novel pathogenic WHRN variant causing hearing loss in a moroccan family-Reference-Cited by-同舟云学术

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Novel pathogenic WHRN variant causing hearing loss in a moroccan family

Published:2023-11-04 Issue:12 Volume:50 Page:10663-10669
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

AitRaise Imane,Amalou Ghita,Redouane Salaheddine,Charoute Hicham,Snoussi Khalid,Abdelghaffar Houria,Bonnet Crystel,Petit Christine,Barakat Abdelhamid

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s11033-023-08901-8.pdf

Reference22 articles.

1. Gettelfinger JD, Dahl JP (2018) Syndromic hearing loss: a brief review of Common Presentations and Genetics. J Pediatr Genet 7:1–8. https://doi.org/10.1055/s-0037-1617454

2. Petrova N, Tebieva I, Kadyshev V et al (2023) Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania. PeerJ 11:e14514. https://doi.org/10.7717/peerj.14514

3. Bakhchane A, Bousfiha A, Charoute H et al (2016) Update of the spectrum of GJB2 gene mutations in 152 moroccan families with autosomal recessive nonsyndromic hearing loss. Eur J Med Genet 59:325–329. https://doi.org/10.1016/j.ejmg.2016.05.002

4. Aller E, Jaijo T, van Wijk E et al (2010) Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis 16:495–500

5. Mathur PD, Yang J (2019) Usher syndrome and non-syndromic deafness: functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Hear Res 375:14–24. https://doi.org/10.1016/j.heares.2019.02.007

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