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Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome: Extremely Variable Liver Disease Severity From Claudin-1 Deficiency

Paganelli, Massimiliano*; Stephenne, Xavier*; Gilis, Allison*; Jacquemin, Emmanuel§; Caude, Alexandra Henrion||; Girard, Muriel||; Gonzales, Emmanuel§; Revencu, Nicole; Reding, Raymond; Wanty, Catherine*; Smets, Françoise*; Sokal, Etienne M.*

Journal of Pediatric Gastroenterology and Nutrition: September 2011 - Volume 53 - Issue 3 - p 350–354
doi: 10.1097/MPG.0b013e3182169433
Case Reports

*Pediatric Gastroenterology and Liver Unit

Pediatric Surgery and Transplant Unit

Human Genetics Centre, Cliniques Saint-Luc, Université Catholique de Louvain, Brussels, Belgium

§Pediatric Hepatology, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France

||Genetics Department, Necker Enfants Malades Hospital, Paris, France.

Address correspondence and reprint requests to Professor Etienne M. Sokal, MD, PhD, Department of Paediatrics, Université Catholique de Louvain, 10, Av Hippocrate—1200 Brussels, Belgium (e-mail:

Received 6 December, 2010

Accepted 13 February, 2011

The authors report no conflicts of interest.

Copyright 2011 by ESPGHAN and NASPGHAN