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Article

Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.

Acta oto-laryngologica - 1 May 2017

Wang Cuicui, Lu Yu, Cheng Jing, Zhang Lei, Liu Wei, Peng Weihua, Zhang Di, Duan Hong, Han Dongyi, Yuan Huijun

Abstract excerpt

CONCLUSION: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and emphasized the importance of molecular genetic analysis in confirming clinical diagnosis and making diagnosis possible before the emergency symptoms for deaf individuals. OBJECTIVES: This study aimed to investigate four patients from three Chinese...

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Source

Identifiers

PMID: 27917693
DOI: 10.1080/00016489.2016.1260156

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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