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Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review

Abstract Background paucity of interlobular bile ducts is an important observation at liver biopsy in the diagnostic work-up of neonatal cholestasis. To date, other than in the Alagille syndrome, syndromic paucity of interlobular bile ducts has been documented in four cholestatic neonates with HFN1β...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Michele Pinon, Michele Carboni, Davide Colavito, Fabio Cisarò, Licia Peruzzi, Antonio Pizzol, Giulia Calosso, Ezio David, Pier Luigi Calvo
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2019-02-01
Schriftenreihe:Italian Journal of Pediatrics
Schlagworte:
Paucity of interlobular bile ducts
HNF1β mutations
Alagille syndrome
Ciliopathy
Renal cysts
Online-Zugang:http://link.springer.com/article/10.1186/s13052-019-0617-y
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