Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

T. J. De Koning, L A Sandkuijl, J E De Schryver, E A Hennekam, F A Beemer, R H Houwen

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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.

Original languageEnglish
Pages (from-to)479-482
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume57
Issue number3
DOIs
Publication statusPublished - 3-Jul-1995
Externally publishedYes

Keywords

  • Cholestasis, Intrahepatic
  • Consanguinity
  • Female
  • Genes, Recessive
  • Heterozygote Detection
  • Humans
  • Infant
  • Male
  • Pedigree
  • Recurrence
  • Case Reports
  • Journal Article

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