hrp0089p2-p107 | Diabetes & Insulin P2 | ESPE2018
Khan Durray Shahwar
, Dastamani Antonia
, Antell Hannah
, Shah Pratik
Background: Alagille syndrome (ALGS) is an autosomal dominant genetic disorder, with highly variable phenotype affecting multiple organs. Commonly presents in infancy or early childhood as cholestasis. Mutations in the notch signaling pathway ligand (JAG1) or its receptor (NOTCH2) lead to ALGS. This pathway is important for the pancreatic development. However,no cases of ALGS with Congenital Hyperinsulinism (CHI) have been reported to date.<p class="abste...