Association of Very Rare NOTCH2 Variants with Clinical Features of Alagille Syndrome.
Martina FerrandinoGiovanna CardieroFabiola Di DatoYlenia CerratoLuigi VitaglianoClaudia MandatoFilomena MoriscoMaria Immacolata SpagnuoloRaffaele IorioMaria Donata Di TarantoGiuliana FortunatoPublished in: Genes (2024)
variants and the related phenotype, allowing us to improve the genetic diagnosis of ALGS.