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

Alagille syndrome (ALGS) is a rare autosomal dominant genetic disease caused by pathogenic variants in two genes: Jagged Canonical Notch Ligand 1 ( ) and Notch Receptor 2 ( ). It is characterized by phenotypic variability and incomplete penetrance with multiorgan clinical signs. Using Next Generatio...

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Veröffentlicht in:	Genes 2024-08, Vol.15 (8), p.1034
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alagille syndrome Alagille Syndrome - genetics Bile ducts Bioinformatics Causes of Child Child, Preschool Cholestasis Diagnosis Disease Female Gallbladder diseases Genes Genetic aspects Genetic disorders Genetic screening Genetic variability Genetics Genomes Genomics Glycosylation High-Throughput Nucleotide Sequencing Humans Infant Jagged-1 Protein - genetics Ligands Liver Liver diseases Male Mutation Mutation, Missense Next-generation sequencing Notch protein Pathogenicity Patients Pediatrics Phenotype Phenotypes Physiological aspects Proteins Rare diseases Receptor, Notch2 - genetics Signal transduction
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