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Article

Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.

BMC pediatrics - 18 Nov 2023

Zhang Hua-Yong, Xiao Min, Zhang Yong

Abstract excerpt

BACKGROUND: Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported. CASE PRESENTATION: We report a 1-year-old boy who presented with exercise...

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Identifiers

PMID: 37980465
DOI: 10.1186/s12887-023-04408-0
PMCID: PMC10656980

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