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Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

✍ Scribed by de Koning, Tom J. ;Sandkuijl, Lodewijk A. ;de Schryver, Jan E. A. R. ;Hennekam, Eric A. M. ;Beemer, Frits A. ;Houwen, Roderick H. J.

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 404 KB
Volume: 57
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320570324

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✦ Synopsis

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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