Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Clin Liver Dis. 2000 Nov;4(4):765-78.

Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.

Author information

  • 1INSERM U347, Le Kremlin-BicĂȘtre, France.

Abstract

Alagille syndrome was described more than 35 years ago as a genetic entity characterized by five major features: chronic cholestasis resulting from paucity of interlobular bile ducts, peripheral pulmonary stenosis, butterflylike vertebral arch defect, posterior embryotoxon, and peculiar facies. Recently, JAGGED1 has been identified as a responsible gene by demonstration of mutations in AGS patients. Studies of the JAGGED1 expression pattern demonstrate that minor features and almost all the elements in the long list of manifestations described in AGS patients are not coincidental. This finding suggests that the definition of AGS may be reconsidered in the light of JAGGED1 mutations.

PMID:
11232356
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk