Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype
Identifieur interne : 007A28 ( Istex/Corpus ); précédent : 007A27; suivant : 007A29Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype
Auteurs : Reena Rai ; S. Thiagarajan ; Soumya Mohandas ; Karthika Natarajan ; C. Shanmuga Sekar ; S. RamalingamSource :
- International Journal of Dermatology [ 0011-9059 ] ; 2010-05.
English descriptors
- KwdEn :
- Abscess, Acral, Acral osteolysis, Allelic, Allelic variants, Amino, Arachnodactyly, Cathepsin, Cochin, Ctsc, Dermatol, Dermatology, Environmental factors, Epithelium, Exon, Genet, Haim, Haim munk syndrome, Homozygous point mutation, International society, Junctional, Junctional epithelium, Keratoderma, Munk, Mutation, Onychogryphosis, Osteolysis, Palmoplantar, Palmoplantar keratoderma, Periodontal, Periodontitis, Phenotype, Planus, Syndrome.
- Teeft :
- Abscess, Acral, Acral osteolysis, Allelic, Allelic variants, Amino, Arachnodactyly, Cathepsin, Cochin, Ctsc, Dermatol, Dermatology, Environmental factors, Epithelium, Exon, Genet, Haim, Haim munk syndrome, Homozygous point mutation, International society, Junctional, Junctional epithelium, Keratoderma, Munk, Mutation, Onychogryphosis, Osteolysis, Palmoplantar, Palmoplantar keratoderma, Periodontal, Periodontitis, Phenotype, Planus, Syndrome.
Abstract
Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.
Url:
DOI: 10.1111/j.1365-4632.2010.04300.x
Links to Exploration step
ISTEX:F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39Le document en format XML
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The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>cathepsin</json:string><json:string>exon</json:string><json:string>palmoplantar</json:string><json:string>haim</json:string><json:string>periodontitis</json:string><json:string>munk</json:string><json:string>keratoderma</json:string><json:string>arachnodactyly</json:string><json:string>epithelium</json:string><json:string>dermatology</json:string><json:string>onychogryphosis</json:string><json:string>planus</json:string><json:string>palmoplantar keratoderma</json:string><json:string>genet</json:string><json:string>acral</json:string><json:string>haim munk syndrome</json:string><json:string>osteolysis</json:string><json:string>allelic</json:string><json:string>ctsc</json:string><json:string>abscess</json:string><json:string>acral osteolysis</json:string><json:string>phenotype</json:string><json:string>syndrome</json:string><json:string>cochin</json:string><json:string>periodontal</json:string><json:string>junctional epithelium</json:string><json:string>dermatol</json:string><json:string>junctional</json:string><json:string>environmental factors</json:string><json:string>allelic variants</json:string><json:string>international society</json:string><json:string>homozygous point mutation</json:string><json:string>amino</json:string></teeft></keywords><author><json:item><name>Reena Rai MD</name><affiliations><json:string>Department of Dermatology</json:string></affiliations></json:item><json:item><name>S. Thiagarajan PhD</name><affiliations><json:string>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India</json:string></affiliations></json:item><json:item><name>Soumya Mohandas MBBS</name><affiliations><json:string>Department of Dermatology</json:string></affiliations></json:item><json:item><name>Karthika Natarajan MBBS</name><affiliations><json:string>Department of Dermatology</json:string></affiliations></json:item><json:item><name>C. Shanmuga Sekar MD</name><affiliations><json:string>Department of Dermatology</json:string></affiliations></json:item><json:item><name>S. Ramalingam MD</name><affiliations><json:string>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India</json:string></affiliations></json:item></author><articleId><json:string>IJD4300</json:string></articleId><arkIstex>ark:/67375/WNG-901KFPZF-8</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.</abstract><qualityIndicators><score>4.253</score><pdfWordCount>1449</pdfWordCount><pdfCharCount>9258</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>3</pdfPageCount><pdfPageSize>595.276 x 782.362 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>67</abstractWordCount><abstractCharCount>485</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype</title><pmid><json:string>20534088</json:string></pmid><genre><json:string>article</json:string></genre><host><title>International Journal of Dermatology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1111/(ISSN)1365-4632</json:string></doi><issn><json:string>0011-9059</json:string></issn><eissn><json:string>1365-4632</json:string></eissn><publisherId><json:string>IJD</json:string></publisherId><volume>49</volume><issue>5</issue><pages><first>541</first><last>543</last><total>3</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Medical genetics</value></json:item></subject></host><namedEntities><unitex><date><json:string>2010</json:string></date><geogName></geogName><orgName></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Nails</json:string><json:string>Feet</json:string><json:string>Soumya Mohandas</json:string><json:string>Hacham</json:string><json:string>C. 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Ramalingam</json:string></persName><placeName><json:string>Pakistan</json:string><json:string>Brazil</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Zadeh et al.</json:string><json:string>Hart et al.</json:string><json:string>Rai et al.</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-901KFPZF-8</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - dermatology</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - clinical medicine</json:string><json:string>3 - dermatology & venereal diseases</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Dermatology</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string><json:string>4 - dermatologie</json:string></inist></categories><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1111/j.1365-4632.2010.04300.x</json:string></doi><id>F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main">Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><licence>© 2010 The International Society of Dermatology</licence></availability><date type="published" when="2010-05"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype</title><title level="a" type="short">HMS and PLS‐Allelic mutations in cathepsin C</title><author xml:id="author-0000"><persName><forename type="first">Reena</forename><surname>Rai</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Dermatology</affiliation><note type="foot">
These two authors have contributed equally.</note></author><author xml:id="author-0001"><persName><forename type="first">S.</forename><surname>Thiagarajan</surname><roleName type="degree">PhD</roleName></persName><affiliation>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India<address><country key="IN"></country></address></affiliation><note type="foot">
These two authors have contributed equally.</note></author><author xml:id="author-0002"><persName><forename type="first">Soumya</forename><surname>Mohandas</surname><roleName type="degree">MBBS</roleName></persName><affiliation>Department of Dermatology</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Karthika</forename><surname>Natarajan</surname><roleName type="degree">MBBS</roleName></persName><affiliation>Department of Dermatology</affiliation></author><author xml:id="author-0004"><persName><forename type="first">C.</forename><surname>Shanmuga Sekar</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Dermatology</affiliation></author><author xml:id="author-0005"><persName><forename type="first">S.</forename><surname>Ramalingam</surname><roleName type="degree">MD</roleName></persName><affiliation>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India<address><country key="IN"></country></address></affiliation></author><idno type="istex">F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39</idno><idno type="ark">ark:/67375/WNG-901KFPZF-8</idno><idno type="DOI">10.1111/j.1365-4632.2010.04300.x</idno><idno type="unit">IJD4300</idno><idno type="toTypesetVersion">file:IJD.IJD4300.pdf</idno></analytic><monogr><title level="j" type="main">International Journal of Dermatology</title><title level="j" type="alt">INTERNATIONAL JOURNAL OF DERMATOLOGY</title><idno type="pISSN">0011-9059</idno><idno type="eISSN">1365-4632</idno><idno type="book-DOI">10.1111/(ISSN)1365-4632</idno><idno type="book-part-DOI">10.1111/ijd.2010.49.issue-5</idno><idno type="product">IJD</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">49</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="541">541</biblScope><biblScope unit="page" to="543">543</biblScope><biblScope unit="page-count">3</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-05"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.</p></abstract><textClass><keywords rend="tocHeading1"><term>Medical genetics</term></keywords><keywords rend="articleCategory"><term>Medical genetics</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1365-4632</doi><issn type="print">0011-9059</issn><issn type="electronic">1365-4632</issn><idGroup><id type="product" value="IJD"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="INTERNATIONAL JOURNAL OF DERMATOLOGY">International Journal of Dermatology</title></titleGroup></publicationMeta><publicationMeta level="part" position="05105"><doi origin="wiley">10.1111/ijd.2010.49.issue-5</doi><numberingGroup><numbering type="journalVolume" number="49">49</numbering><numbering type="journalIssue" number="5">5</numbering></numberingGroup><coverDate startDate="2010-05">May 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="11" status="forIssue"><doi origin="wiley">10.1111/j.1365-4632.2010.04300.x</doi><idGroup><id type="unit" value="IJD4300"></id></idGroup><countGroup><count type="pageTotal" number="3"></count></countGroup><titleGroup><title type="tocHeading1">Medical genetics</title><title type="articleCategory">Medical genetics</title></titleGroup><copyright>© 2010 The International Society of Dermatology</copyright><eventGroup><event type="firstOnline" date="2010-04-26"></event><event type="publishedOnlineFinalForm" date="2010-04-26"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:3.1.3 standalone mode:FullText" date="2012-03-21"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-13"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-24"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="541">541</numbering><numbering type="pageLast" number="543">543</numbering></numberingGroup><correspondenceTo>Dr Reena Rai, MD
Professor
Department of Dermatology
PSG Hospitals
Peelamedu
Coimbatore – 641 004
Tamil Nadu
India
E‐mail: <email>drreena_rai@yahoo.co.in</email>; <email>codp2008@yahoo.co.uk</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:IJD.IJD4300.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="0"></count></countGroup><titleGroup><title type="main">Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype</title><title type="shortAuthors"><i>Rai </i> et al.</title><title type="short">HMS and PLS‐Allelic mutations in cathepsin C</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1" noteRef="#fn1"><personName><givenNames>Reena</givenNames><familyName>Rai</familyName><degrees>MD</degrees></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a2" noteRef="#fn1"><personName><givenNames>S.</givenNames><familyName>Thiagarajan</familyName><degrees>PhD</degrees></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1"><personName><givenNames>Soumya</givenNames><familyName>Mohandas</familyName><degrees>MBBS</degrees></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a1"><personName><givenNames>Karthika</givenNames><familyName>Natarajan</familyName><degrees>MBBS</degrees></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a1"><personName><givenNames>C.</givenNames><familyName>Shanmuga Sekar</familyName><degrees>MD</degrees></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a2"><personName><givenNames>S.</givenNames><familyName>Ramalingam</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="a1"><unparsedAffiliation>Department of Dermatology</unparsedAffiliation></affiliation><affiliation xml:id="a2" countryCode="IN"><unparsedAffiliation>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>
These two authors have contributed equally.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>HMS and PLS‐Allelic mutations in cathepsin C</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Haim Munk syndrome and Papillon Lefevre syndrome – allelic mutations in cathepsin C with variation in phenotype</title></titleInfo><name type="personal"><namePart type="given">Reena</namePart><namePart type="family">Rai</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Dermatology</affiliation><description>These two authors have contributed equally.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Thiagarajan</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India</affiliation><description>These two authors have contributed equally.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Soumya</namePart><namePart type="family">Mohandas</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>Department of Dermatology</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karthika</namePart><namePart type="family">Natarajan</namePart><namePart type="termsOfAddress">MBBS</namePart><affiliation>Department of Dermatology</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Shanmuga Sekar</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Dermatology</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Ramalingam</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Pharmacology, PSG Institute of Medical Science & Research, Coimbatore, Tamil Nadu, India</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2010-05</dateIssued><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">3</extent><extent unit="tables">0</extent></physicalDescription><abstract lang="en">Papillon–Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.</abstract><relatedItem type="host"><titleInfo><title>International Journal of Dermatology</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Medical genetics</topic></subject><identifier type="ISSN">0011-9059</identifier><identifier type="eISSN">1365-4632</identifier><identifier type="DOI">10.1111/(ISSN)1365-4632</identifier><identifier type="PublisherID">IJD</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>49</number></detail><detail type="issue"><caption>no.</caption><number>5</number></detail><extent unit="pages"><start>541</start><end>543</end><total>3</total></extent></part></relatedItem><identifier type="istex">F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39</identifier><identifier type="ark">ark:/67375/WNG-901KFPZF-8</identifier><identifier type="DOI">10.1111/j.1365-4632.2010.04300.x</identifier><identifier type="ArticleID">IJD4300</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2010 The International Society of Dermatology</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Blackwell Publishing Ltd</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/F6FBB316347D9A5627FF1BC674DB4C72DCC2BB39/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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