An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nons...
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene
About this item
Full title
Author / Creator
Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
Journal title
Language
English
Formats
Publication information
Publisher
Tehran: Academy of Medical Sciences of I.R. Iran
Subjects
More information
Scope and Contents
Contents
Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of...
Alternative Titles
Full title
An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10685723
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10685723
Other Identifiers
ISSN
1029-2977
E-ISSN
1735-3947
DOI
10.34172/aim.2023.27
