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Article

Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome.

Genes - 6 Aug 2024

Ferrandino Martina, Cardiero Giovanna, Di Dato Fabiola, Cerrato Ylenia, Vitagliano Luigi, Mandato Claudia, Morisco Filomena, Spagnuolo Maria Immacolata, Iorio Raffaele, Di Taranto Maria Donata, Fortunato Giuliana

Abstract excerpt

BACKGROUND: Alagille syndrome (ALGS) is a rare autosomal dominant genetic disease caused by pathogenic variants in two genes: Jagged Canonical Notch Ligand 1 (JAG1) and Notch Receptor 2 (NOTCH2). It is characterized by phenotypic variability and incomplete penetrance with multiorgan clinical signs. METHODS: Using Next Generation Sequencing (NGS), we analyzed a panel of liver-disease-related genes in a population...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Identifiers

PMID: 39202394
DOI: 10.3390/genes15081034
PMCID: PMC11353882

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