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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...

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Principais autores: Michele Pinon, Michele Carboni, Davide Colavito, Fabio Cisarò, Licia Peruzzi, Antonio Pizzol, Giulia Calosso, Ezio David, Pier Luigi Calvo
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2019-02-01
Serier:Italian Journal of Pediatrics
Fag:
Paucity of interlobular bile ducts
HNF1β mutations
Alagille syndrome
Ciliopathy
Renal cysts
Online adgang:http://link.springer.com/article/10.1186/s13052-019-0617-y
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