Variants in CIB2 cause DFNB48 and not USH1J

The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher Syndrome (USH). Variants i...

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Publicat a:Clin Genet
Autors principals: Booth, Kevin T, Kahrizi, Kimia, Babanejad, Mojgan, Daghagh, Hossein, Bademci, Guney, Arzhangi, Sanaz, Zareabdollahi, Davood, Duman, Duygu, El-Amraoui, Aziz, Tekin, Mustafa, Najmabadi, Hossein, Azaiez, Hela, Smith, Richard J
Format: Artigo
Idioma:Inglês
Publicat: 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5851821/
https://ncbi.nlm.nih.gov/pubmed/29112224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13170
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