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Article

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".

BMC medical genetics - 16 Oct 2017

Uysal Fahrettin, Turkgenc Burcu, Toksoy Guven, Bostan Ozlem M, Evke Elif, Uyguner Oya, Yakicier Cengiz, Kayserili Hulya, Cil Ergun, Temel Sehime G

Abstract excerpt

BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. CASE...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Homeobox Protein Nkx-2.5

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Source

Open in PubMed Open full text

Identifiers

PMID: 29037160
DOI: 10.1186/s12881-017-0474-8
PMCID: PMC5644177

Genes

KCNQ1
RYR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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