title: Alagille syndrome and other hereditary causes of cholestasis.
abstract: Neonatal conjugated jaundice is a common presentation of hereditary liver diseases, which, although rare, are important to recognize early. Developments in molecular genetic techniques have enabled the identification of causative genes, which has improved diagnostic accuracy for patients and has led to a greater understanding of the molecular pathways involved in liver biology and pathogenesis of liver diseases. This review provides an update of the current understanding of clinical and molecular features of the inherited liver diseases that cause neonatal conjugated jaundice.
authors.affiliation: Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.
authors.forename: Jane L
authors.initials: JL
authors.lastname: Hartley
authors.forename: Paul
authors.initials: P
authors.lastname: Gissen
authors.forename: Deirdre A
authors.initials: DA
authors.lastname: Kelly
mesh_terms: D016738:Alagille Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D002779:Cholestasis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D011379:Prognosis