Syndrome d’Alagille [Alagille Syndrome]

Details

Serval ID
serval:BIB_ABC011209ABD
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Syndrome d’Alagille [Alagille Syndrome]
Journal
Revue medicale suisse
Author(s)
Wakim El-Khoury J., Venetz J.P., Rutz T., Sciarra A., Unger S., Sempoux C., Moradpour D., Fraga M.
ISSN
1660-9379 (Print)
ISSN-L
1660-9379
Publication state
Published
Issued date
28/08/2019
Peer-reviewed
Oui
Volume
15
Number
660
Pages
1506-1510
Language
french
Notes
Publication types: Journal Article ; Review
Publication Status: ppublish
Abstract
Alagille syndrome is a rare disorder with low physician awareness. It affects multiple organs and thus patient management involves several medical specialties. It is an autosomal dominant disorder with significant intrafamilial variability. The most frequent clinical manifestations are neonatal jaundice, chronic cholestasis as well as cardiac, ocular and skeletal malformations associated with characteristic facial features. Inherited mutations affect the Notch pathway. Although the molecular basis of Alagille syndrome is well defined, no specific targeted therapy exists.
Keywords
Alagille Syndrome/genetics, Alagille Syndrome/pathology, Humans
Pubmed
Create date
17/09/2019 17:49
Last modification date
13/02/2020 7:26
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