Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

PURPOSE: Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. Six USH1 genes have been ident...

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Détails bibliographiques
Publié dans:Mol Vis
Auteurs principaux: Ben-Rebeh, Imen, Grati, Mhamed, Bonnet, Crystel, Bouassida, Walid, Hadjamor, Imen, Ayadi, Hammadi, Ghorbel, Abdelmonem, Petit, Christine, Masmoudi, Saber
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2016
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4950652/
https://ncbi.nlm.nih.gov/pubmed/27440999
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