Cargando…

Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population

INTRODUCTION: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. OBJECTIVES: In this study, we investigated genetic causes in 22 individuals with non-GJB2 HI. M...

Descripción completa

Detalles Bibliográficos
Autores principales: Souissi, Amal, Ben Said, Mariem, Ben Ayed, Ikhlas, Elloumi, Ines, Bouzid, Amal, Mosrati, Mohamed Ali, Hasnaoui, Mehdi, Belcadhi, Malek, Idriss, Nabil, Kamoun, Hassen, Gharbi, Nourhene, Gibriel, Abdullah A., Tlili, Abdelaziz, Masmoudi, Saber
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8240103/
https://www.ncbi.nlm.nih.gov/pubmed/34194829
http://dx.doi.org/10.1016/j.jare.2021.01.005