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 language | English |
|---|---|
| Pages (from-to) | 479-482 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 57 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 3-Jul-1995 |
| Externally published | Yes |
Keywords
- Cholestasis, Intrahepatic
- Consanguinity
- Female
- Genes, Recessive
- Heterozygote Detection
- Humans
- Infant
- Male
- Pedigree
- Recurrence
- Case Reports
- Journal Article