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Article

Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.

Scientific reports - 8 Jul 2021

Hou Cuilan, Zheng Junmin, Liu Wei, Xie Lijian, Sun Xiaomin, Zhang Yongwei, Xu Meng, Li Yun, Xiao Tingting

Abstract excerpt

Congenital heart defects, one of the most common birth defects, affect approximately 1% of live birth globally and remain the leading cause of infant mortality in developed countries. Utilizing the pathogenicity score and inheritance mode from whole exome sequencing results, a heterozygous mutation (NM_001278939.1: c.1939G>T, p.Gly647Ter) in elastin (ELN) was identified among 6,440 variants in a female proband...

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Identifiers

PMID: 34238994
DOI: 10.1038/s41598-021-93736-1
PMCID: PMC8266886

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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