Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis
(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:
https://lup.lub.lu.se/record/038f26c5-5fd4-434a-8d1c-f48e19b11007
- author
- 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.
- publishing date
- 1995-07-03
- 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
- John Wiley & Sons 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
- 2024-01-02 07:22:38
@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 = {{John Wiley & Sons 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}}, }