JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

JPGN Rep. 2023 Jul 17;4(3):e338. doi: 10.1097/PG9.0000000000000338. eCollection 2023 Aug.

Marion Almes^{1

2}, Antoine Gardin^{1

2}, Anne Davit-Spraul^{2

3}, Jérôme Bouligand⁴, Dalila Habes^{1

2}, Emmanuel Jacquemin^{1

2}

¹ Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER.
² Inserm U1193, Hepatinov, University Paris-Saclay, Orsay, France.
³ Biochemistry Unit.
⁴ Molecular Genetics and Pharmacogenetics, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, University Paris-Saclay, Le Kremlin-Bicêtre, France.

No abstract available

Keywords: cholestasis; modifier gene; next generation sequencing; thrombospondin 2.