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

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...

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Bibliographic Details
Main Authors: Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Journal of Advanced Research
Subjects:
Hearing impairment
Genetic heterogeneity
Next generation sequencing
Diagnosis
Pathogenic variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2090123221000126

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http://www.sciencedirect.com/science/article/pii/S2090123221000126

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