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Article

Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.

Cardiology in the young - 1 Jan 2016

Ziesenitz Victoria C, Loukanov Tsvetomir, Gläser Christiane, Gorenflo Matthias

Abstract excerpt

We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient's sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant card...

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Share to Alagille Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Intercellular Signaling Peptides and Proteins

Share to Jagged-1 Protein

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Source

Identifiers

PMID: 25613755
DOI: 10.1017/S1047951114002753

Genes

JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25613755-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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