Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital...

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Detalles Bibliográficos
Autores principales: Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Lahbib, Saida, Bouyacoub, Yosra, Bechraoui, Rym, Marrakchi, Jihène, Hardelin, Jean-Pierre, Louha, Malek, Largueche, Leila, Ben Yahia, Salim, Kheirallah, Moncef, Elmatri, Leila, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370767/
https://www.ncbi.nlm.nih.gov/pubmed/25798947
http://dx.doi.org/10.1371/journal.pone.0120584

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370767/
https://www.ncbi.nlm.nih.gov/pubmed/25798947
http://dx.doi.org/10.1371/journal.pone.0120584

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