LymphedemaV1, Main, Exploration, bibRecordById, PMC:1051095

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

Identifieur interne : 00BA37 ( Main/Exploration ); précédent : 00BA36; suivant : 00BA38

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

Auteurs : A A Morris [Royaume-Uni] ; J S Sequeira [Royaume-Uni] ; M. Malone [Royaume-Uni] ; S F Slaney [Royaume-Uni] ; P T Clayton [Royaume-Uni]

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 1997-10.

RBID : ISTEX:3667BA7633275BFABC76EE56C4B6F8B63E3CB9A0

Descripteurs français

KwdFr :
- Adulte, Cholestase intrahépatique (anatomopathologie), Cholestase intrahépatique (génétique), Cholestase intrahépatique (métabolisme), Cholestase intrahépatique (traitement médicamenteux), Conduits biliaires (malformations), Femelle, Foie (anatomopathologie), Humains, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Lymphoedème (métabolisme), Mâle, Nourrisson, Pedigree, Syndrome.
MESH :
- anatomopathologie : Cholestase intrahépatique, Foie, Lymphoedème.
- génétique : Cholestase intrahépatique, Lymphoedème.
- malformations : Conduits biliaires.
- métabolisme : Cholestase intrahépatique, Lymphoedème.
- traitement médicamenteux : Cholestase intrahépatique.
Pascal (Inist)
- Aagenaes syndrome, Adulte, Association, Cholostase, Déterminisme génétique, Etude cas, Etude familiale, Femelle, Homme, Humains, Lymphoedème, Mode transmission, Mâle, Nourrisson, Pedigree, Syndrome.
Wicri :
- topic : Association, Homme.

English descriptors

KwdEn :
- Aagenaes syndrome, Adult, Association, Bile Ducts (abnormalities), Case study, Cholestasis, Intrahepatic (drug therapy), Cholestasis, Intrahepatic (genetics), Cholestasis, Intrahepatic (metabolism), Cholestasis, Intrahepatic (pathology), Cholostasis, Family study, Female, Genetic inheritance, Human, Humans, Infant, Liver (pathology), Lymphedema, Lymphedema (genetics), Lymphedema (metabolism), Lymphedema (pathology), Male, Pedigree, Syndrome, Transmission mode.
MESH :
- abnormalities : Bile Ducts.
- drug therapy : Cholestasis, Intrahepatic.
- genetics : Cholestasis, Intrahepatic, Lymphedema.
- metabolism : Cholestasis, Intrahepatic, Lymphedema.
- pathology : Cholestasis, Intrahepatic, Liver, Lymphedema.
- Adult, Female, Humans, Infant, Male, Pedigree, Syndrome.

Abstract

We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.

Url:

DOI: 10.1136/jmg.34.10.852

Affiliations:

Le document en format XML

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<term>Case study</term>
<term>Cholestasis, Intrahepatic (drug therapy)</term>
<term>Cholestasis, Intrahepatic (genetics)</term>
<term>Cholestasis, Intrahepatic (metabolism)</term>
<term>Cholestasis, Intrahepatic (pathology)</term>
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<term>Family study</term>
<term>Female</term>
<term>Genetic inheritance</term>
<term>Human</term>
<term>Humans</term>
<term>Infant</term>
<term>Liver (pathology)</term>
<term>Lymphedema</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (metabolism)</term>
<term>Lymphedema (pathology)</term>
<term>Male</term>
<term>Pedigree</term>
<term>Syndrome</term>
<term>Transmission mode</term>
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<term>Cholestase intrahépatique (anatomopathologie)</term>
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<term>Cholestase intrahépatique (métabolisme)</term>
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<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (génétique)</term>
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Serveur d'exploration sur le lymphœdème

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

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