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Article

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

Indian journal of pediatrics - 1 Dec 2018

Mishra Shivani, Pandey Himani, Srivastava Priyanka, Mandal Kausik, Phadke Shubha R

Abstract excerpt

OBJECTIVE: To determine the prevalence and spectrum of Connexin 26 (GJB2) mutations in pre-lingual non-syndromic hearing loss (NSHL) patients in authors' centre and to review the data of Indian patients from the literature. METHODS: Sanger sequencing of entire coding region contained in single exon (Exon 2) of GJB2 gene in 15 patients of NSHL. RESULTS: GJB2 mutations were found in 40% (6/15) of NSHL patients, out...

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Source

Identifiers

PMID: 29542069
DOI: 10.1007/s12098-018-2654-8

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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