Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

De Koning, T. J. LU ; Sandkuijl, L. A. ; De Schryver, J. E.A.R. ; Hennekam, E. A.M. ; Beemer, F. A. and Houwen, R. H.J. (1995) In American Journal of Medical Genetics 57(3). p.479-482
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.

Please use this url to cite or link to this publication:
author
; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
autosomal-recessive inheritance, benign recurrent intrahepatic cholestasis, BRIC
in
American Journal of Medical Genetics
volume
57
issue
3
pages
4 pages
publisher
Wiley-Liss Inc.
external identifiers
  • scopus:0029010385
  • pmid:7677155
ISSN
0148-7299
DOI
10.1002/ajmg.1320570324
language
English
LU publication?
no
id
038f26c5-5fd4-434a-8d1c-f48e19b11007
date added to LUP
2020-03-03 19:24:37
date last changed
2025-10-14 11:24:37
@article{038f26c5-5fd4-434a-8d1c-f48e19b11007,
  abstract     = {{<p>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.</p>}},
  author       = {{De Koning, T. J. and Sandkuijl, L. A. and De Schryver, J. E.A.R. and Hennekam, E. A.M. and Beemer, F. A. and Houwen, R. H.J.}},
  issn         = {{0148-7299}},
  keywords     = {{autosomal-recessive inheritance; benign recurrent intrahepatic cholestasis; BRIC}},
  language     = {{eng}},
  month        = {{07}},
  number       = {{3}},
  pages        = {{479--482}},
  publisher    = {{Wiley-Liss Inc.}},
  series       = {{American Journal of Medical Genetics}},
  title        = {{Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis}},
  url          = {{http://dx.doi.org/10.1002/ajmg.1320570324}},
  doi          = {{10.1002/ajmg.1320570324}},
  volume       = {{57}},
  year         = {{1995}},
}