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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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).</title><author><name sortKey="Morris, A A" sort="Morris, A A" uniqKey="Morris A" first="A A" last="Morris">A A Morris</name></author><author><name sortKey="Sequeira, J S" sort="Sequeira, J S" uniqKey="Sequeira J" first="J S" last="Sequeira">J S Sequeira</name></author><author><name sortKey="Malone, M" sort="Malone, M" uniqKey="Malone M" first="M" last="Malone">M. Malone</name></author><author><name sortKey="Slaney, S F" sort="Slaney, S F" uniqKey="Slaney S" first="S F" last="Slaney">S F Slaney</name></author><author><name sortKey="Clayton, P T" sort="Clayton, P T" uniqKey="Clayton P" first="P T" last="Clayton">P T Clayton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">9350821</idno><idno type="pmc">1051095</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051095</idno><idno type="RBID">PMC:1051095</idno><date when="1997">1997</date><idno type="wicri:Area/Pmc/Corpus">001900</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001900</idno><idno type="wicri:Area/Pmc/Curation">001899</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001899</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).</title><author><name sortKey="Morris, A A" sort="Morris, A A" uniqKey="Morris A" first="A A" last="Morris">A A Morris</name></author><author><name sortKey="Sequeira, J S" sort="Sequeira, J S" uniqKey="Sequeira J" first="J S" last="Sequeira">J S Sequeira</name></author><author><name sortKey="Malone, M" sort="Malone, M" uniqKey="Malone M" first="M" last="Malone">M. Malone</name></author><author><name sortKey="Slaney, S F" sort="Slaney, S F" uniqKey="Slaney S" first="S F" last="Slaney">S F Slaney</name></author><author><name sortKey="Clayton, P T" sort="Clayton, P T" uniqKey="Clayton P" first="P T" last="Clayton">P T Clayton</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1997">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><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><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00252-0060-a" xlink:role="852"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00252-0060-b" xlink:role="852"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00252-0061-a" xlink:role="853"></graphic></fig></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">9350821</article-id><article-id pub-id-type="pmc">1051095</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Morris</surname><given-names>A A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sequeira</surname><given-names>J S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Malone</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Slaney</surname><given-names>S F</given-names></name></contrib><contrib contrib-type="author"><name><surname>Clayton</surname><given-names>P T</given-names></name></contrib></contrib-group><aff>The Institute of Child Health, London, UK.</aff><pub-date pub-type="ppub"><month>10</month><year>1997</year></pub-date><volume>34</volume><issue>10</issue><fpage>852</fpage><lpage>853</lpage><abstract><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><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00252-0060-a" xlink:role="852"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00252-0060-b" xlink:role="852"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00252-0061-a" xlink:role="853"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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