Two Novel Mutations in the <i>JAG1</i> Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic

Two Novel Mutations in the <i>JAG1</i> Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic

Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the <i>JAG1</i> gene, only rarely in the <i>NOTCH2</i> gene, which gives rise to malfo...

Full description

Bibliographic Details
Main Authors: Dagmar Prochazková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý, Šárka Pospíšilová
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Diagnostics
Subjects:
Alagille syndrome
<i>JAG1</i> gene
pediatric patients
cholestasis
Online Access:https://www.mdpi.com/2075-4418/11/6/983

Internet

https://www.mdpi.com/2075-4418/11/6/983

Similar Items