title: Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.
abstract: Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.
authors.affiliation: Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
authors.forename: T J
authors.initials: TJ
authors.lastname: De Koning
authors.forename: L A
authors.initials: LA
authors.lastname: Sandkuijl
authors.forename: J E
authors.initials: JE
authors.lastname: De Schryver
authors.forename: E A
authors.initials: EA
authors.lastname: Hennekam
authors.forename: F A
authors.initials: FA
authors.lastname: Beemer
authors.forename: R H
authors.initials: RH
authors.lastname: Houwen
mesh_terms: D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012008:Recurrence