Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
Identifieur interne : 001899 ( Pmc/Curation ); précédent : 001898; suivant : 001900Parent-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.
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.
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PubMed: 9350821
PubMed Central: 1051095
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<author><name sortKey="Sequeira, J S" sort="Sequeira, J S" uniqKey="Sequeira J" first="J S" last="Sequeira">J S Sequeira</name>
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<author><name sortKey="Malone, M" sort="Malone, M" uniqKey="Malone M" first="M" last="Malone">M. Malone</name>
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<author><name sortKey="Slaney, S F" sort="Slaney, S F" uniqKey="Slaney S" first="S F" last="Slaney">S F Slaney</name>
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<series><title level="j">Journal of Medical Genetics</title>
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<aff>The Institute of Child Health, London, UK.</aff>
<pub-date pub-type="ppub"><month>10</month>
<year>1997</year>
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<volume>34</volume>
<issue>10</issue>
<fpage>852</fpage>
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