LymphedemaV1, Main, Curation, bibRecord, 009268

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Identifieur interne : 009268 ( Main/Curation ); précédent : 009267; suivant : 009269

Evidence 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 Ellemunter

Source :

The Journal of pediatrics [ 0022-3476 ] ; 2003.

RBID : Pascal:03-0416342

Descripteurs français

KwdFr :
- Cartographie chromosomique, Cholestase (), Cholestase (génétique), Haplotypes (génétique), Humains, Hétérogénéité génétique, Liaison génétique (génétique), Lymphoedème (), Lymphoedème (génétique), Mâle, Nouveau-né, Pedigree, Syndrome.
MESH :
- génétique : Cholestase, Haplotypes, Liaison génétique, Lymphoedème.
Pascal (Inist)
- Cartographie chromosomique, Cholestase, Génétique, Humains, Hétérogénéité, Hétérogénéité génétique, Lymphoedème, Association, Cholostase, Enfant, Etude cas, Mâle, Nouveau-né, Pedigree, Syndrome.
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.

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Le document en format XML

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<author><name sortKey="Aagenaes,  Ystein" sort="Aagenaes,  Ystein" uniqKey="Aagenaes  " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name>
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<series><title level="j" type="main">The Journal of pediatrics</title>
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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>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
<term>Lymphedema</term>
</keywords>
<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>
<term>Syndrome</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Cartographie chromosomique</term>
<term>Cholestase</term>
<term>Génétique</term>
<term>Humains</term>
<term>Hétérogénéité</term>
<term>Hétérogénéité génétique</term>
<term>Lymphoedème</term>
<term>Association</term>
<term>Cholostase</term>
<term>Enfant</term>
<term>Etude cas</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Syndrome</term>
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<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Association</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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<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Departments of Pediatrics and Transplantation Surgery, University Hospital Innsbruck</s1>
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</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California</s1>
<s2>San Francisco</s2>
<s3>USA</s3>
</inist:fA14>
<country>États-Unis</country>
<placeName><settlement type="city">San Francisco</settlement>
<region type="state">Californie</region>
</placeName>
</affiliation>
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<s2>London</s2>
<s3>GBR</s3>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
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<s3>NOR</s3>
</inist:fA14>
<country>Norvège</country>
<wicri:noRegion>Medical Genetics and Pediatrics, Ullevål University Hospital of Oslo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name>
</author>
<author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name>
</author>
<author><name sortKey="Carlton, Victoria E H" sort="Carlton, Victoria E H" uniqKey="Carlton V" first="Victoria E. H." last="Carlton">Victoria E. H. Carlton</name>
</author>
<author><name sortKey="Kronenberg, Florian" sort="Kronenberg, Florian" uniqKey="Kronenberg F" first="Florian" last="Kronenberg">Florian Kronenberg</name>
</author>
<author><name sortKey="Offner, Felix" sort="Offner, Felix" uniqKey="Offner F" first="Felix" last="Offner">Felix Offner</name>
</author>
<author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name>
</author>
<author><name sortKey="Geleff, Silvana" sort="Geleff, Silvana" uniqKey="Geleff S" first="Silvana" last="Geleff">Silvana Geleff</name>
</author>
<author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J." last="Song">Eyun J. Song</name>
</author>
<author><name sortKey="Simma, Burkhard" sort="Simma, Burkhard" uniqKey="Simma B" first="Burkhard" last="Simma">Burkhard Simma</name>
</author>
<author><name sortKey="Konigsrainer, Alfred" sort="Konigsrainer, Alfred" uniqKey="Konigsrainer A" first="Alfred" last="Königsrainer">Alfred Königsrainer</name>
</author>
<author><name sortKey="Margreiter, Raimund" sort="Margreiter, Raimund" uniqKey="Margreiter R" first="Raimund" last="Margreiter">Raimund Margreiter</name>
</author>
<author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C. B." last="Van Der Hagen">C. B. Van Der Hagen</name>
</author>
<author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name>
</author>
<author><name sortKey="Aagenaes,  Ystein" sort="Aagenaes,  Ystein" uniqKey="Aagenaes  " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name>
</author>
<author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name>
</author>
<author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name>
</author>
</titleStmt>
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<idno type="inist">03-0416342</idno>
<date when="2003">2003</date>
<idno type="stanalyst">PASCAL 03-0416342 INIST</idno>
<idno type="RBID">Pascal:03-0416342</idno>
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<idno type="wicri:Area/Main/Merge">009586</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome</title>
<author><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Departments of Pediatrics and Transplantation Surgery, University Hospital Innsbruck</s1>
<s2>Vienna</s2>
<s3>AUT</s3>
</inist:fA14>
<country>Autriche</country>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Institute of Medical Biology and Human Genetics, University of Innsbruck</s1>
<s2>Vienna</s2>
<s3>AUT</s3>
</inist:fA14>
<country>Autriche</country>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Departments of Pathology and Pediatrics, Academic Teaching Hospital Feldkirch</s1>
<s2>Vienna</s2>
<s3>AUT</s3>
</inist:fA14>
<country>Autriche</country>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Clinical Pathology, University of Vienna</s1>
<s2>Vienna</s2>
<s3>AUT</s3>
</inist:fA14>
<country>Autriche</country>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
<region nuts="2" type="province">Vienne (Autriche)</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Liver Center Laboratory and Department of Medicine, San Francisco General Hospital, University of California</s1>
<s2>San Francisco</s2>
<s3>USA</s3>
</inist:fA14>
<country>États-Unis</country>
<placeName><settlement type="city">San Francisco</settlement>
<region type="state">Californie</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Institute of Liver Studies, King's College Hospital</s1>
<s2>London</s2>
<s3>GBR</s3>
</inist:fA14>
<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Medical Genetics and Pediatrics, Ullevål University Hospital of Oslo</s1>
<s3>NOR</s3>
</inist:fA14>
<country>Norvège</country>
<wicri:noRegion>Medical Genetics and Pediatrics, Ullevål University Hospital of Oslo</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R." last="Janecke">Andreas R. Janecke</name>
</author>
<author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name>
</author>
<author><name sortKey="Carlton, Victoria E H" sort="Carlton, Victoria E H" uniqKey="Carlton V" first="Victoria E. H." last="Carlton">Victoria E. H. Carlton</name>
</author>
<author><name sortKey="Kronenberg, Florian" sort="Kronenberg, Florian" uniqKey="Kronenberg F" first="Florian" last="Kronenberg">Florian Kronenberg</name>
</author>
<author><name sortKey="Offner, Felix" sort="Offner, Felix" uniqKey="Offner F" first="Felix" last="Offner">Felix Offner</name>
</author>
<author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A. S." last="Knisely">A. S. Knisely</name>
</author>
<author><name sortKey="Geleff, Silvana" sort="Geleff, Silvana" uniqKey="Geleff S" first="Silvana" last="Geleff">Silvana Geleff</name>
</author>
<author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J." last="Song">Eyun J. Song</name>
</author>
<author><name sortKey="Simma, Burkhard" sort="Simma, Burkhard" uniqKey="Simma B" first="Burkhard" last="Simma">Burkhard Simma</name>
</author>
<author><name sortKey="Konigsrainer, Alfred" sort="Konigsrainer, Alfred" uniqKey="Konigsrainer A" first="Alfred" last="Königsrainer">Alfred Königsrainer</name>
</author>
<author><name sortKey="Margreiter, Raimund" sort="Margreiter, Raimund" uniqKey="Margreiter R" first="Raimund" last="Margreiter">Raimund Margreiter</name>
</author>
<author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C. B." last="Van Der Hagen">C. B. Van Der Hagen</name>
</author>
<author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name>
</author>
<author><name sortKey="Aagenaes,  Ystein" sort="Aagenaes,  Ystein" uniqKey="Aagenaes  " first=" Ystein" last="Aagenaes"> Ystein Aagenaes</name>
</author>
<author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name>
</author>
<author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name>
</author>
</analytic>
<series><title level="j" type="main">The Journal of pediatrics</title>
<title level="j" type="abbreviated">J. pediatr.</title>
<idno type="ISSN">0022-3476</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">The Journal of pediatrics</title>
<title level="j" type="abbreviated">J. pediatr.</title>
<idno type="ISSN">0022-3476</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term>
<term>Case study</term>
<term>Child</term>
<term>Cholostasis</term>
<term>Genetics</term>
<term>Heterogeneity</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Génétique</term>
<term>Hétérogénéité</term>
<term>Lymphoedème</term>
<term>Association</term>
<term>Cholostase</term>
<term>Enfant</term>
<term>Etude cas</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Association</term>
<term>Enfant</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</front>
</TEI>
</INIST>
<PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.</title>
<author><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck</wicri:regionArea>
<wicri:noRegion>University of Innsbruck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R" last="Janecke">Andreas R. Janecke</name>
</author>
<author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name>
</author>
<author><name sortKey="Carlton, Victoria E H" sort="Carlton, Victoria E H" uniqKey="Carlton V" first="Victoria E H" last="Carlton">Victoria E H. Carlton</name>
</author>
<author><name sortKey="Kronenberg, Florian" sort="Kronenberg, Florian" uniqKey="Kronenberg F" first="Florian" last="Kronenberg">Florian Kronenberg</name>
</author>
<author><name sortKey="Offner, Felix" sort="Offner, Felix" uniqKey="Offner F" first="Felix" last="Offner">Felix Offner</name>
</author>
<author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A S" last="Knisely">A S Knisely</name>
</author>
<author><name sortKey="Geleff, Silvana" sort="Geleff, Silvana" uniqKey="Geleff S" first="Silvana" last="Geleff">Silvana Geleff</name>
</author>
<author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J" last="Song">Eyun J. Song</name>
</author>
<author><name sortKey="Simma, Burkhard" sort="Simma, Burkhard" uniqKey="Simma B" first="Burkhard" last="Simma">Burkhard Simma</name>
</author>
<author><name sortKey="Konigsrainer, Alfred" sort="Konigsrainer, Alfred" uniqKey="Konigsrainer A" first="Alfred" last="Königsrainer">Alfred Königsrainer</name>
</author>
<author><name sortKey="Margreiter, Raimund" sort="Margreiter, Raimund" uniqKey="Margreiter R" first="Raimund" last="Margreiter">Raimund Margreiter</name>
</author>
<author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C B" last="Van Der Hagen">C B Van Der Hagen</name>
</author>
<author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name>
</author>
<author><name sortKey="Aagenaes, Oystein" sort="Aagenaes, Oystein" uniqKey="Aagenaes O" first="Oystein" last="Aagenaes">Oystein Aagenaes</name>
</author>
<author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name>
</author>
<author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2003">2003</date>
<idno type="RBID">pubmed:12712065</idno>
<idno type="pmid">12712065</idno>
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<idno type="wicri:Area/Ncbi/Merge">000D38</idno>
<idno type="wicri:Area/Ncbi/Curation">000D38</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000D38</idno>
<idno type="wicri:doubleKey">0022-3476:2003:Fruhwirth M:evidence:for:genetic</idno>
<idno type="wicri:Area/Main/Merge">009194</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.</title>
<author><name sortKey="Fruhwirth, Martin" sort="Fruhwirth, Martin" uniqKey="Fruhwirth M" first="Martin" last="Frühwirth">Martin Frühwirth</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, University Hospital Innsbruck, the Institute of Medical Biology and Human Genetics, University of Innsbruck</wicri:regionArea>
<wicri:noRegion>University of Innsbruck</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R" last="Janecke">Andreas R. Janecke</name>
</author>
<author><name sortKey="Muller, Thomas" sort="Muller, Thomas" uniqKey="Muller T" first="Thomas" last="Müller">Thomas Müller</name>
</author>
<author><name sortKey="Carlton, Victoria E H" sort="Carlton, Victoria E H" uniqKey="Carlton V" first="Victoria E H" last="Carlton">Victoria E H. Carlton</name>
</author>
<author><name sortKey="Kronenberg, Florian" sort="Kronenberg, Florian" uniqKey="Kronenberg F" first="Florian" last="Kronenberg">Florian Kronenberg</name>
</author>
<author><name sortKey="Offner, Felix" sort="Offner, Felix" uniqKey="Offner F" first="Felix" last="Offner">Felix Offner</name>
</author>
<author><name sortKey="Knisely, A S" sort="Knisely, A S" uniqKey="Knisely A" first="A S" last="Knisely">A S Knisely</name>
</author>
<author><name sortKey="Geleff, Silvana" sort="Geleff, Silvana" uniqKey="Geleff S" first="Silvana" last="Geleff">Silvana Geleff</name>
</author>
<author><name sortKey="Song, Eyun J" sort="Song, Eyun J" uniqKey="Song E" first="Eyun J" last="Song">Eyun J. Song</name>
</author>
<author><name sortKey="Simma, Burkhard" sort="Simma, Burkhard" uniqKey="Simma B" first="Burkhard" last="Simma">Burkhard Simma</name>
</author>
<author><name sortKey="Konigsrainer, Alfred" sort="Konigsrainer, Alfred" uniqKey="Konigsrainer A" first="Alfred" last="Königsrainer">Alfred Königsrainer</name>
</author>
<author><name sortKey="Margreiter, Raimund" sort="Margreiter, Raimund" uniqKey="Margreiter R" first="Raimund" last="Margreiter">Raimund Margreiter</name>
</author>
<author><name sortKey="Van Der Hagen, C B" sort="Van Der Hagen, C B" uniqKey="Van Der Hagen C" first="C B" last="Van Der Hagen">C B Van Der Hagen</name>
</author>
<author><name sortKey="Eiklid, Kristin" sort="Eiklid, Kristin" uniqKey="Eiklid K" first="Kristin" last="Eiklid">Kristin Eiklid</name>
</author>
<author><name sortKey="Aagenaes, Oystein" sort="Aagenaes, Oystein" uniqKey="Aagenaes O" first="Oystein" last="Aagenaes">Oystein Aagenaes</name>
</author>
<author><name sortKey="Bull, Laura" sort="Bull, Laura" uniqKey="Bull L" first="Laura" last="Bull">Laura Bull</name>
</author>
<author><name sortKey="Ellemunter, Helmut" sort="Ellemunter, Helmut" uniqKey="Ellemunter H" first="Helmut" last="Ellemunter">Helmut Ellemunter</name>
</author>
</analytic>
<series><title level="j">The Journal of pediatrics</title>
<idno type="ISSN">0022-3476</idno>
<imprint><date when="2003" type="published">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cholestasis (complications)</term>
<term>Cholestasis (congenital)</term>
<term>Cholestasis (genetics)</term>
<term>Chromosome Mapping</term>
<term>Genetic Heterogeneity</term>
<term>Genetic Linkage (genetics)</term>
<term>Haplotypes (genetics)</term>
<term>Humans</term>
<term>Infant, Newborn</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>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
<term>Lymphedema</term>
</keywords>
<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>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Cartographie chromosomique</term>
<term>Cholestase</term>
<term>Humains</term>
<term>Hétérogénéité génétique</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Syndrome</term>
</keywords>
</textClass>
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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 Serbian 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 undescribed lymphedema-cholestasis syndrome.</div>
</front>
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Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome

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