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Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report.

Medicine - 16 Aug 2024

Tao Yilun, Hu Zhipeng, Han Dong, Song Wenxia, Wang Lihong, Wang Haiwei, Li Xiaoze

Abstract excerpt

RATIONALE: Congenital sensorineural hearing loss is a significant global health issue, primarily driven by genetic factors, such as mutations in the GJB2 gene. This report presents a Chinese girl with congenital deafness and a novel mutation of the GJB2 gene. PATIENT CONCERNS: A newborn Chinese girl exhibited signs of congenital deafness. DIAGNOSIS: Congenital deafness was confirmed through comprehensive newborn...

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Identifiers

PMID: 39151510
DOI: 10.1097/MD.0000000000039266
PMCID: PMC11332773

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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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