Associated Papers
First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.
Song A et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern.
Martinez HR et al.
American Journal of Medical Genetics. Part A, 2011
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
Nakamura M et al.
Brain & Development, 2005
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D et al.
European Journal of Medical Genetics, 0
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