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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clin Genet
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2018
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge