Two Novel Mutations in the JAG1 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 JAG1 gene, only rarely in the NOTCH2 gene, which gives rise to malformations in multiple organs. Bile duct...

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Detalles Bibliográficos
Autores principales: Procházková, Dagmar, Borská, Romana, Fajkusová, Lenka, Konečná, Petra, Hloušková, Eliška, Pavlovský, Zdeněk, Slabý, Ondřej, Pospíšilová, Šárka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230072/
https://www.ncbi.nlm.nih.gov/pubmed/34071626
http://dx.doi.org/10.3390/diagnostics11060983

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230072/
https://www.ncbi.nlm.nih.gov/pubmed/34071626
http://dx.doi.org/10.3390/diagnostics11060983

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