A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorineural hearing loss, allowed us to identify CLRN2, e...

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Detalles Bibliográficos
Autores principales: Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy A., Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Aboulfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard J. H., Haaf, Thomas, El-Amraoui, Aziz, Bowl, Michael R., Varshney, Gaurav K., Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099798/
https://www.ncbi.nlm.nih.gov/pubmed/33496845
http://dx.doi.org/10.1007/s00439-020-02254-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8099798/
https://www.ncbi.nlm.nih.gov/pubmed/33496845
http://dx.doi.org/10.1007/s00439-020-02254-z

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