Associated Papers
Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.
Cheng P et al.
Frontiers in Pediatrics, 2026
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis.
Zhou J et al.
Frontiers in Genetics, 2022
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.
Hu X et al.
Frontiers in Genetics, 2020
Elastin-driven genetic diseases.
Duque Lasio ML et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.
Graul-Neumann LM et al.
American Journal of Medical Genetics. Part A, 2008
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