| Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. | |
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MedLine Citation:
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PMID: 7677155 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 57 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1995 Jul |
Date Detail:
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Created Date: 1995-10-19 Completed Date: 1995-10-19 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 479-82 Citation Subset: IM |
Affiliation:
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Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Cholestasis, Intrahepatic
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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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