Hereditary cholestasis of the Norwegian type: Aagenaes syndrome

N. M. Lindor; A. Schirger; V. V. Michels

Hereditary cholestasis of the Norwegian type: Aagenaes syndrome

N. M. Lindor
, A. Schirger
, V. V. Michels

Research

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

Abstract

Congenital cholestasis with lymphedema (Aagenaes syndrome) is a rare autosomal recessive disorder first described in a large Norwegian kindred in 1968. The natural history of this disorder is still unclear due to lack of longitudinal data on affected patients. We report the medical status of a 24-year-old woman with Aagenaes syndrome who was reported previously in the literature at age 2 years.

Original language	English (US)
Pages (from-to)	180-183
Number of pages	4
Journal	Dysmorphology and Clinical Genetics
Volume	6
Issue number	4
State	Published - 1992

Keywords

Aagenaes syndrome
Lymphedema
Norwegian cholestasis

ASJC Scopus subject areas

Anatomy
Genetics(clinical)

Cite this

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title = "Hereditary cholestasis of the Norwegian type: Aagenaes syndrome",

abstract = "Congenital cholestasis with lymphedema (Aagenaes syndrome) is a rare autosomal recessive disorder first described in a large Norwegian kindred in 1968. The natural history of this disorder is still unclear due to lack of longitudinal data on affected patients. We report the medical status of a 24-year-old woman with Aagenaes syndrome who was reported previously in the literature at age 2 years.",

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year = "1992",

language = "English (US)",

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journal = "Dysmorphology and Clinical Genetics",

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T1 - Hereditary cholestasis of the Norwegian type

T2 - Aagenaes syndrome

AU - Lindor, N. M.

AU - Schirger, A.

AU - Michels, V. V.

PY - 1992

Y1 - 1992

N2 - Congenital cholestasis with lymphedema (Aagenaes syndrome) is a rare autosomal recessive disorder first described in a large Norwegian kindred in 1968. The natural history of this disorder is still unclear due to lack of longitudinal data on affected patients. We report the medical status of a 24-year-old woman with Aagenaes syndrome who was reported previously in the literature at age 2 years.

AB - Congenital cholestasis with lymphedema (Aagenaes syndrome) is a rare autosomal recessive disorder first described in a large Norwegian kindred in 1968. The natural history of this disorder is still unclear due to lack of longitudinal data on affected patients. We report the medical status of a 24-year-old woman with Aagenaes syndrome who was reported previously in the literature at age 2 years.

KW - Aagenaes syndrome

KW - Lymphedema

KW - Norwegian cholestasis

UR - https://www.scopus.com/pages/publications/0026959708

UR - https://www.scopus.com/pages/publications/0026959708#tab=citedBy

M3 - Article

AN - SCOPUS:0026959708

SN - 0893-6633

VL - 6

SP - 180

EP - 183

JO - Dysmorphology and Clinical Genetics

JF - Dysmorphology and Clinical Genetics

IS - 4

ER -

Hereditary cholestasis of the Norwegian type: Aagenaes syndrome

Abstract

Keywords

ASJC Scopus subject areas

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