Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome

Box 2

Major diagnostic criteria of Alagille Syndrome [2, 4, 7, 8].

(i) Diagnosis of Alagille Syndrome requires biopsy

   proven paucity of interlobular bile ducts

(ii) Plus 3 of the following 5 characteristic features:

   (a) Chronic cholestasis

   (b) Congenital cardiac disease

   (c) Skeletal defects

   (d) Ocular anomalies

   (e) Characteristic facies