Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
Identifieur interne : 009268 ( Main/Exploration ); précédent : 009267; suivant : 009269Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
Auteurs : Martin Frühwirth [Autriche, États-Unis, Royaume-Uni, Norvège] ; Andreas R. Janecke ; Thomas Müller ; Victoria E. H. Carlton ; Florian Kronenberg ; Felix Offner ; A. S. Knisely ; Silvana Geleff ; Eyun J. Song ; Burkhard Simma ; Alfred Königsrainer ; Raimund Margreiter ; C. B. Van Der Hagen ; Kristin Eiklid ; Ystein Aagenaes ; Laura Bull ; Helmut EllemunterSource :
- The Journal of pediatrics [ 0022-3476 ] ; 2003.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Cholestase, Haplotypes, Liaison génétique, Lymphoedème.
- Pascal (Inist)
- Wicri :
- topic : Génétique, Association, Enfant.
English descriptors
- KwdEn :
- Association, Case study, Child, Cholestasis (complications), Cholestasis (congenital), Cholestasis (genetics), Cholostasis, Chromosome Mapping, Genetic Heterogeneity, Genetic Linkage (genetics), Genetics, Haplotypes (genetics), Heterogeneity, Humans, Infant, Newborn, Lymphedema, Lymphedema (complications), Lymphedema (congenital), Lymphedema (genetics), Male, Pedigree, Syndrome.
- MESH :
- complications : Cholestasis, Lymphedema.
- congenital : Cholestasis, Lymphedema.
- genetics : Cholestasis, Genetic Linkage, Haplotypes, Lymphedema.
- Chromosome Mapping, Genetic Heterogeneity, Humans, Infant, Newborn, Male, Pedigree, Syndrome.
Abstract
Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.
Affiliations:
- Autriche, Norvège, Royaume-Uni, États-Unis
- Angleterre, Californie, Grand Londres, Vienne (Autriche)
- Londres, San Francisco, Vienne (Autriche)
Links toward previous steps (curation, corpus...)
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- to stream PubMed, to step Corpus: 004276
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Le document en format XML
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Case study</term>
<term>Child</term>
<term>Cholestasis (complications)</term>
<term>Cholestasis (congenital)</term>
<term>Cholestasis (genetics)</term>
<term>Cholostasis</term>
<term>Chromosome Mapping</term>
<term>Genetic Heterogeneity</term>
<term>Genetic Linkage (genetics)</term>
<term>Genetics</term>
<term>Haplotypes (genetics)</term>
<term>Heterogeneity</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Lymphedema</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cartographie chromosomique</term>
<term>Cholestase ()</term>
<term>Cholestase (génétique)</term>
<term>Haplotypes (génétique)</term>
<term>Humains</term>
<term>Hétérogénéité génétique</term>
<term>Liaison génétique (génétique)</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Syndrome</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase</term>
<term>Haplotypes</term>
<term>Liaison génétique</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Chromosome Mapping</term>
<term>Genetic Heterogeneity</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Pedigree</term>
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<front><div type="abstract" xml:lang="en">Lymphedema-cholestasis syndrome (LCS, Aagenaes syndrome) is the only known form of hereditary lymphedema associated with cholestasis. A locus, LCS1, has recently been mapped to chromosome 15q in a Norwegian kindred. In a consanguine Serhian Romani family with a neonate who had a combination of lymphedema and cholestasis with features atypical for Norwegian LCS, haplotype and linkage analysis of markers spanning the LCS1 region argue that a second LCS locus may exist. The infant may represent an instance of a previously undeseribed lymphedema-cholestasis syndrome.</div>
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<name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
<name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
<name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
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<country name="États-Unis"><region name="Californie"><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
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<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
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<country name="Norvège"><noRegion><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
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