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Article

Jagged-1 mutation is associated with congenital heart defects: a case report.

Journal of medical case reports - 6 May 2026

Alahmed Othman, Alaamery Manal, Alhabshan Fahad, Chaikhouni Farah, Kabbani Mohamed S, Bouvagnet Patrice, Massadeh Salam

Abstract excerpt

BACKGROUND: Congenital heart defects (CHD) refer to a wide range of heart structural abnormalities that exist at birth, ranging from malformations with a good prognosis to more complicated and severe lesions. Congenital heart defects can result from mutations in genes encoding cell signaling transducers such as Jagged-1 (JAG1). Mutations in JAG1 are linked to rare autosomal-dominant disorders, often resulting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42093019
DOI: 10.1186/s13256-026-06096-7
PMCID: PMC13173698

Genes

JAG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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