Document Detail

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.
MedLine Citation:
PMID:  7677155     Owner:  NLM     Status:  MEDLINE    
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.
T J De Koning; L A Sandkuijl; J E De Schryver; E A Hennekam; F A Beemer; R H Houwen
Related Documents :
3944405 - Oculopharyngeal muscular dystrophy as a cause of dysphagia in the elderly.
15103725 - Solitary median maxillary central incisor syndrome: clinical case with a novel mutation...
6859025 - Hepatitis a associated with a hardware store water fountain and a contaminated well in ...
25048605 - Laundry detergent pod ingestions: is there a need for endoscopy?
10913575 - Gigerenzer's normative critique of kahneman and tversky.
18399845 - The evidence for the use of recombinant factor viia in massive bleeding: development of...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  57     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-10-19     Completed Date:  1995-10-19     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  479-82     Citation Subset:  IM    
Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Cholestasis, Intrahepatic / genetics*
Genes, Recessive*
Heterozygote Detection

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL...
Next Document:  Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critica...