Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

T. J. De Koning; L. A. Sandkuijl; J. E.A.R. De Schryver; E. A.M. Hennekam; F. A. Beemer; R. H.J. Houwen

doi:10.1002/ajmg.1320570324

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

T. J. De Koning, L. A. Sandkuijl, J. E.A.R. De Schryver, E. A.M. Hennekam, F. A. Beemer, R. H.J. Houwen^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

29 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	479-482
Number of pages	4
Journal	American Journal of Medical Genetics
Volume	57
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.1320570324
Publication status	Published - 3 Jul 1995

Keywords

autosomal-recessive inheritance
benign recurrent intrahepatic cholestasis
BRIC

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title = "Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis",

abstract = "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.",

keywords = "autosomal-recessive inheritance, benign recurrent intrahepatic cholestasis, BRIC",

author = "{De Koning}, {T. J.} and Sandkuijl, {L. A.} and {De Schryver}, {J. E.A.R.} and Hennekam, {E. A.M.} and Beemer, {F. A.} and Houwen, {R. H.J.}",

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AU - De Koning, T. J.

AU - Sandkuijl, L. A.

AU - De Schryver, J. E.A.R.

AU - Hennekam, E. A.M.

AU - Beemer, F. A.

AU - Houwen, R. H.J.

PY - 1995/7/3

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N2 - 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.

AB - 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.

KW - autosomal-recessive inheritance

KW - benign recurrent intrahepatic cholestasis

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JF - American Journal of Medical Genetics

IS - 3

ER -

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

Abstract

Keywords

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