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Article

Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome.

Ophthalmic genetics - 1 Oct 2024

Law Christine, Pattathil Niveditha, Simpson Hailey, Ward Michael J, Lampen Shaun, Kamath Binita, Aleman Tomas S

Abstract excerpt

PURPOSE: To explore patterns of disease expression in Alagille syndrome (ALGS). METHODS: Patients underwent ophthalmic examination, optical coherence tomography (OCT) imaging, fundus intravenous fluorescein angiography (IVFA), perimetry and full-field electroretinograms (ffERGs). An adult ALGS patient had multimodal imaging and specialized perimetry. RESULTS: The proband (P1) had a heterozygous pathogenic variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38956866
DOI: 10.1080/13816810.2024.2362214

Genes

JAG1

Variants

Provenance

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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