Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Identifieur interne : 00BA37 ( Main/Exploration ); précédent : 00BA36; suivant : 00BA38Parent-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.
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)
- 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:
- https://api.istex.fr/document/3667BA7633275BFABC76EE56C4B6F8B63E3CB9A0/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051095
DOI: 10.1136/jmg.34.10.852
Affiliations:
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Le document en format XML
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<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>
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<term>Human</term>
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<term>Lymphedema</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (metabolism)</term>
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<term>Pedigree</term>
<term>Syndrome</term>
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<term>Cholestase intrahépatique (anatomopathologie)</term>
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<front><div type="abstract" xml:lang="en">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.</div>
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