Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

Research output: Contribution to journalArticle

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.

Details

Authors
  • T. J. De Koning
  • L. A. Sandkuijl
  • J. E.A.R. De Schryver
  • E. A.M. Hennekam
  • F. A. Beemer
  • R. H.J. Houwen
External organisations
  • Wilhelmina Children’s Hospital
Research areas and keywords

Keywords

  • autosomal-recessive inheritance, benign recurrent intrahepatic cholestasis, BRIC
Original languageEnglish
Pages (from-to)479-482
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume57
Issue number3
Publication statusPublished - 1995 Jul 3
Publication categoryResearch
Peer-reviewedYes
Externally publishedYes