AUTOSOMAL-RECESSIVE INHERITANCE OF BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS

被引：27

作者：

DEKONING, TJ

SANDKUIJL, LA

DESCHRYVER, JEAR

HENNEKAM, EAM

BEEMER, FA

HOUWEN, RHJ

机构：

[1] WILHELMINA CHILDRENS HOSP,DEPT PEDIAT GASTROENTEROL,3501 CA UTRECHT,NETHERLANDS

[2] CLIN GENET CTR,3501 CA UTRECHT,NETHERLANDS

[3] ERASMUS UNIV ROTTERDAM,INST CLIN GENET,ROTTERDAM,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 03期

关键词：

BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS; BRIC; AUTOSOMAL-RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320570324

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 1995 Wiley-Liss, Inc.

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页码：479 / 482

页数：4

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