Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Identifieur interne : 00BA76 ( Ncbi/Checkpoint ); précédent : 00BA75; suivant : 00BA77Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Auteurs : A A Morris ; J S Sequeira ; M. Malone ; S F Slaney ; P T ClaytonSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1997.
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.
- Adulte, Femelle, Humains, Mâle, Nourrisson, Pedigree, Syndrome.
English descriptors
- KwdEn :
- Adult, Bile Ducts (abnormalities), Cholestasis, Intrahepatic (drug therapy), Cholestasis, Intrahepatic (genetics), Cholestasis, Intrahepatic (metabolism), Cholestasis, Intrahepatic (pathology), Female, Humans, Infant, Liver (pathology), Lymphedema (genetics), Lymphedema (metabolism), Lymphedema (pathology), Male, Pedigree, Syndrome.
- 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:
PubMed: 9350821
PubMed Central: 1051095
Affiliations:
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PMC:1051095Le document en format XML
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<term>Cholestasis, Intrahepatic (genetics)</term>
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<term>Cholestase intrahépatique (métabolisme)</term>
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<front><div type="abstract" xml:lang="en"><p>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.</p>
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