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Article

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

Genetic testing and molecular biomarkers - 1 May 2017

Wang Rongrong, Han Shirui, Khan Amjad, Zhang Xue

Abstract excerpt

AIM: To investigate the causative genetic mutations in 12 Pakistani families with nonsyndromic or syndromic hearing loss. METHODS: Mutations in the most common causative gene for hearing loss, GJB2, were evaluated by Sanger sequencing. Targeted next-generation sequencing or whole-exome sequencing was used to analyze the genomic DNA samples from 11 probands with hearing loss. Sanger sequencing was performed to...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28281779
DOI: 10.1089/gtmb.2016.0328
PMCID: PMC5444417

Genes

GJB2
ESPN
LHFPL5
LRTOMT
PCDH15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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