CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Identifieur interne : 000737 ( Main/Curation ); précédent : 000736; suivant : 000738CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Auteurs : André Viveiros [Autriche] ; Marion Reiterer [Autriche] ; Benedikt Schaefer [Autriche] ; Armin Finkenstedt [Autriche] ; Stefan Schneeberger [Autriche] ; Hubert Schwaighofer [Autriche] ; Patrizia Moser [Autriche] ; Rudolf Sprenger [Autriche] ; Bernhard Glodny [Autriche] ; Wolfgang Vogel [Autriche] ; Andreas R. Janecke [Autriche] ; Heinz Zoller [Autriche]Source :
- Hepatology (Baltimore, Md.) [ 1527-3350 ] ; 2017.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Angiocholite sclérosante (anatomopathologie), Angiocholite sclérosante (génétique), Angiocholite sclérosante (imagerie diagnostique), Cholangiographie (), Cholestase (), Cholestase (imagerie diagnostique), Humains, Imagerie par résonance magnétique (), Immunohistochimie, Indice de gravité médicale, Lymphoedème (), Lymphoedème (imagerie diagnostique), Maladies rares, Mutation, Ponction-biopsie à l'aiguille, Protéines de liaison au calcium (génétique), Protéines suppresseurs de tumeurs (génétique), Prédisposition génétique à une maladie, Récidive.
- MESH :
- anatomopathologie : Angiocholite sclérosante.
- génétique : Angiocholite sclérosante, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- imagerie diagnostique : Angiocholite sclérosante, Cholestase, Lymphoedème.
- Adulte d'âge moyen, Cholangiographie, Cholestase, Humains, Imagerie par résonance magnétique, Immunohistochimie, Indice de gravité médicale, Lymphoedème, Maladies rares, Mutation, Ponction-biopsie à l'aiguille, Prédisposition génétique à une maladie, Récidive.
English descriptors
- KwdEn :
- Biopsy, Needle, Calcium-Binding Proteins (genetics), Cholangiography (methods), Cholangitis, Sclerosing (diagnostic imaging), Cholangitis, Sclerosing (genetics), Cholangitis, Sclerosing (pathology), Cholestasis (diagnostic imaging), Cholestasis (therapy), Genetic Predisposition to Disease, Humans, Immunohistochemistry, Lymphedema (diagnostic imaging), Lymphedema (therapy), Magnetic Resonance Imaging (methods), Middle Aged, Mutation, Rare Diseases, Recurrence, Severity of Illness Index, Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- diagnostic imaging : Cholangitis, Sclerosing, Cholestasis, Lymphedema.
- genetics : Cholangitis, Sclerosing.
- methods : Cholangiography, Magnetic Resonance Imaging.
- pathology : Cholangitis, Sclerosing.
- therapy : Cholestasis, Lymphedema.
- Biopsy, Needle, Genetic Predisposition to Disease, Humans, Immunohistochemistry, Middle Aged, Mutation, Rare Diseases, Recurrence, Severity of Illness Index.
Abstract
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).
DOI: 10.1002/hep.29037
PubMed: 28073151
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000423
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :000423
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000423
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :008B96
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :008B96
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :008B96
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :000738
Links to Exploration step
pubmed:28073151Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.</title>
<author><name sortKey="Viveiros, Andre" sort="Viveiros, Andre" uniqKey="Viveiros A" first="André" last="Viveiros">André Viveiros</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reiterer, Marion" sort="Reiterer, Marion" uniqKey="Reiterer M" first="Marion" last="Reiterer">Marion Reiterer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schaefer, Benedikt" sort="Schaefer, Benedikt" uniqKey="Schaefer B" first="Benedikt" last="Schaefer">Benedikt Schaefer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Finkenstedt, Armin" sort="Finkenstedt, Armin" uniqKey="Finkenstedt A" first="Armin" last="Finkenstedt">Armin Finkenstedt</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schneeberger, Stefan" sort="Schneeberger, Stefan" uniqKey="Schneeberger S" first="Stefan" last="Schneeberger">Stefan Schneeberger</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Surgery, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Surgery, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwaighofer, Hubert" sort="Schwaighofer, Hubert" uniqKey="Schwaighofer H" first="Hubert" last="Schwaighofer">Hubert Schwaighofer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moser, Patrizia" sort="Moser, Patrizia" uniqKey="Moser P" first="Patrizia" last="Moser">Patrizia Moser</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pathology, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pathology, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sprenger, Rudolf" sort="Sprenger, Rudolf" uniqKey="Sprenger R" first="Rudolf" last="Sprenger">Rudolf Sprenger</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Endoscopy Kessler & Sprenger, Feldkirch, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Center for Endoscopy Kessler & Sprenger, Feldkirch</wicri:regionArea>
<wicri:noRegion>Feldkirch</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Glodny, Bernhard" sort="Glodny, Bernhard" uniqKey="Glodny B" first="Bernhard" last="Glodny">Bernhard Glodny</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Radiology, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vogel, Wolfgang" sort="Vogel, Wolfgang" uniqKey="Vogel W" first="Wolfgang" last="Vogel">Wolfgang Vogel</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R" last="Janecke">Andreas R. Janecke</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zoller, Heinz" sort="Zoller, Heinz" uniqKey="Zoller H" first="Heinz" last="Zoller">Heinz Zoller</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2017">2017</date>
<idno type="RBID">pubmed:28073151</idno>
<idno type="pmid">28073151</idno>
<idno type="doi">10.1002/hep.29037</idno>
<idno type="wicri:Area/PubMed/Corpus">000423</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000423</idno>
<idno type="wicri:Area/PubMed/Curation">000423</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000423</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000423</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000423</idno>
<idno type="wicri:Area/Ncbi/Merge">008B96</idno>
<idno type="wicri:Area/Ncbi/Curation">008B96</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">008B96</idno>
<idno type="wicri:Area/Main/Merge">000738</idno>
<idno type="wicri:Area/Main/Curation">000737</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.</title>
<author><name sortKey="Viveiros, Andre" sort="Viveiros, Andre" uniqKey="Viveiros A" first="André" last="Viveiros">André Viveiros</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reiterer, Marion" sort="Reiterer, Marion" uniqKey="Reiterer M" first="Marion" last="Reiterer">Marion Reiterer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schaefer, Benedikt" sort="Schaefer, Benedikt" uniqKey="Schaefer B" first="Benedikt" last="Schaefer">Benedikt Schaefer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Finkenstedt, Armin" sort="Finkenstedt, Armin" uniqKey="Finkenstedt A" first="Armin" last="Finkenstedt">Armin Finkenstedt</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schneeberger, Stefan" sort="Schneeberger, Stefan" uniqKey="Schneeberger S" first="Stefan" last="Schneeberger">Stefan Schneeberger</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Surgery, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Surgery, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwaighofer, Hubert" sort="Schwaighofer, Hubert" uniqKey="Schwaighofer H" first="Hubert" last="Schwaighofer">Hubert Schwaighofer</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Moser, Patrizia" sort="Moser, Patrizia" uniqKey="Moser P" first="Patrizia" last="Moser">Patrizia Moser</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pathology, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pathology, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sprenger, Rudolf" sort="Sprenger, Rudolf" uniqKey="Sprenger R" first="Rudolf" last="Sprenger">Rudolf Sprenger</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Endoscopy Kessler & Sprenger, Feldkirch, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Center for Endoscopy Kessler & Sprenger, Feldkirch</wicri:regionArea>
<wicri:noRegion>Feldkirch</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Glodny, Bernhard" sort="Glodny, Bernhard" uniqKey="Glodny B" first="Bernhard" last="Glodny">Bernhard Glodny</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Radiology, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vogel, Wolfgang" sort="Vogel, Wolfgang" uniqKey="Vogel W" first="Wolfgang" last="Vogel">Wolfgang Vogel</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Janecke, Andreas R" sort="Janecke, Andreas R" uniqKey="Janecke A" first="Andreas R" last="Janecke">Andreas R. Janecke</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Pediatrics, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zoller, Heinz" sort="Zoller, Heinz" uniqKey="Zoller H" first="Heinz" last="Zoller">Heinz Zoller</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.</nlm:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck</wicri:regionArea>
<orgName type="university">Université de médecine d'Innsbruck</orgName>
<placeName><settlement type="city">Innsbruck</settlement>
<region nuts="2" type="region">Tyrol (Land)</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Hepatology (Baltimore, Md.)</title>
<idno type="eISSN">1527-3350</idno>
<imprint><date when="2017" type="published">2017</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biopsy, Needle</term>
<term>Calcium-Binding Proteins (genetics)</term>
<term>Cholangiography (methods)</term>
<term>Cholangitis, Sclerosing (diagnostic imaging)</term>
<term>Cholangitis, Sclerosing (genetics)</term>
<term>Cholangitis, Sclerosing (pathology)</term>
<term>Cholestasis (diagnostic imaging)</term>
<term>Cholestasis (therapy)</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Lymphedema (diagnostic imaging)</term>
<term>Lymphedema (therapy)</term>
<term>Magnetic Resonance Imaging (methods)</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Rare Diseases</term>
<term>Recurrence</term>
<term>Severity of Illness Index</term>
<term>Tumor Suppressor Proteins (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Angiocholite sclérosante (anatomopathologie)</term>
<term>Angiocholite sclérosante (génétique)</term>
<term>Angiocholite sclérosante (imagerie diagnostique)</term>
<term>Cholangiographie ()</term>
<term>Cholestase ()</term>
<term>Cholestase (imagerie diagnostique)</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique ()</term>
<term>Immunohistochimie</term>
<term>Indice de gravité médicale</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (imagerie diagnostique)</term>
<term>Maladies rares</term>
<term>Mutation</term>
<term>Ponction-biopsie à l'aiguille</term>
<term>Protéines de liaison au calcium (génétique)</term>
<term>Protéines suppresseurs de tumeurs (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Récidive</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Calcium-Binding Proteins</term>
<term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Angiocholite sclérosante</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Cholangitis, Sclerosing</term>
<term>Cholestasis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholangitis, Sclerosing</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Angiocholite sclérosante</term>
<term>Protéines de liaison au calcium</term>
<term>Protéines suppresseurs de tumeurs</term>
</keywords>
<keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Angiocholite sclérosante</term>
<term>Cholestase</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Cholangiography</term>
<term>Magnetic Resonance Imaging</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Cholangitis, Sclerosing</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Cholestasis</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Biopsy, Needle</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Rare Diseases</term>
<term>Recurrence</term>
<term>Severity of Illness Index</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte d'âge moyen</term>
<term>Cholangiographie</term>
<term>Cholestase</term>
<term>Humains</term>
<term>Imagerie par résonance magnétique</term>
<term>Immunohistochimie</term>
<term>Indice de gravité médicale</term>
<term>Lymphoedème</term>
<term>Maladies rares</term>
<term>Mutation</term>
<term>Ponction-biopsie à l'aiguille</term>
<term>Prédisposition génétique à une maladie</term>
<term>Récidive</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000737 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 000737 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Main |étape= Curation |type= RBID |clé= pubmed:28073151 |texte= CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Curation/RBID.i -Sk "pubmed:28073151" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |