title: Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency.
authors.affiliation: Pediatric Gastroenterology and Liver Unit, Cliniques Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Paganelli
authors.forename: Xavier
authors.initials: X
authors.lastname: Stephenne
authors.forename: Allison
authors.initials: A
authors.lastname: Gilis
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Jacquemin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Henrion Caude
authors.forename: Muriel
authors.initials: M
authors.lastname: Girard
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Gonzales
authors.forename: Nicole
authors.initials: N
authors.lastname: Revencu
authors.forename: Raymond
authors.initials: R
authors.lastname: Reding
authors.forename: Catherine
authors.initials: C
authors.lastname: Wanty
authors.forename: Françoise
authors.initials: F
authors.lastname: Smets
authors.forename: Etienne M
authors.initials: EM
authors.lastname: Sokal
mesh_terms: D002675:Child, Preschool; D015209:Cholangitis, Sclerosing / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D062445:Claudin-1; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000172:deficiency* / Q000235:genetics; D013577:Syndrome
chemical_list: C568108:CLDN1 protein, human; D062445:Claudin-1; D008565:Membrane Proteins