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Article

Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

Clinical genetics - 1 Jan 2015

Al-Aama J Y, Al-Ghamdi S, Bdier A Y, AlQarawi A, Jiman O A, Al-Aama N, Al-Aata J, Wilde A A M, Bhuiyan Z A

Abstract excerpt

We sought to explore the genotype-phenotype of Jervell and Lange-Nielsen syndrome (JLNS) patients in Saudi Arabia. We have also assessed the plausible effect of consanguinity into the pathology of JLNS. Six families with at least one JLNS-affected member attended our clinic between 2011 and 2013. Retrospective and prospective clinical data were collected and genetic investigation was performed. Pathogenic...

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Source

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PMID: 24372464
DOI: 10.1111/cge.12330

Genes

KCNQ1

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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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