Document Detail


Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.
MedLine Citation:
PMID:  7677155     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
T J De Koning; L A Sandkuijl; J E De Schryver; E A Hennekam; F A Beemer; R H Houwen
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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    
Affiliation:
Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Cholestasis, Intrahepatic / genetics*
Consanguinity
Female
Genes, Recessive*
Heterozygote Detection
Humans
Infant
Male
Pedigree
Recurrence

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


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