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Article

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations.

International journal of pediatric otorhinolaryngology - 1 Jan 2021

Chouchen Jihen, Mahfood Mona, Alobathani Maryam, Eldin Mohamed Walaa Kamal, Tlili Abdelaziz

Abstract excerpt

BACKGROUND: The development of next generation sequencing-based techniques showed an important progress in the identification of pathogenic variants related to monogenetic diseases with genetic and phenotypic heterogeneities. Hereditary hearing loss is considered as one of these heterogeneous diseases, given the large number of deafness causing genes, the different modes of inheritance and the phenotypic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33199029
DOI: 10.1016/j.ijporl.2020.110467

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