Population
Three Jervell and Lange-Nielsen syndrome (JLNS) kindreds from the Chinese National LQTS Registry
Design
Case_series
Authors
Loading...
Extends KCNQ1 mutation spectrum in JLNS and Romano-Ward; leaves open validation of compound heterozygous effects in larger cohorts.
The study broadens the mutation and phenotype spectrums of JLNS, showing that compound heterozygous KCNQ1 mutations can cause both JLNS and severe Romano-Ward syndrome in Chinese individuals.
Gao et al. (2012) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: