Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Identifieur interne : 007902 ( Istex/Corpus ); précédent : 007901; suivant : 007903Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Auteurs : C. Palka ; R. Giuliani ; F. Brancati ; A. Mohn ; A. Di Muzio ; O. Calabrese ; A. Huebner ; D. De Grandis ; F. Chiarelli ; A. Ferlini ; L. StuppiaSource :
- Clinical Genetics [ 0009-9163 ] ; 2010-03.
English descriptors
- KwdEn :
- Aaa, Aaas gene, Achalasia, Alacrimia, Aladin, Allgrove, Allgrove syndrome, Cell biol, Clin, Clin genet, Distal muscles, Edentulism, Generalized weakness, Genet, Hypotrophy, Intrinsic hand muscles, Malar hypoplasia, Mutation, Nasal speech, Normal parameters, Novel aaas mutation, Nuclear pore, Phenotypic spectrum, Pore, Schirmer test alacrimia, Scrotal tongue, Syndrome, Thin legs, Uneventful pregnancy.
- Teeft :
- Aaa, Aaas gene, Achalasia, Alacrimia, Aladin, Allgrove, Allgrove syndrome, Cell biol, Clin, Clin genet, Distal muscles, Edentulism, Generalized weakness, Genet, Hypotrophy, Intrinsic hand muscles, Malar hypoplasia, Mutation, Nasal speech, Normal parameters, Novel aaas mutation, Nuclear pore, Phenotypic spectrum, Pore, Schirmer test alacrimia, Scrotal tongue, Syndrome, Thin legs, Uneventful pregnancy.
Url:
DOI: 10.1111/j.1399-0004.2009.01348.x
Links to Exploration step
ISTEX:F42255861FDFEB523CC0DDAA692F294B2FCAD44BLe document en format XML
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triple A (Allgrove) syndrome</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><availability><licence>© 2010 John Wiley & Sons A/S</licence></availability><date type="published" when="2010-03"></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">Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome</title><author xml:id="author-0000"><persName><forename type="first">C</forename><surname>Palka</surname></persName><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">R</forename><surname>Giuliani</surname></persName><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">F</forename><surname>Brancati</surname></persName><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation><affiliation>IRCCS‐CSS, San Giovanni Rotondo and CSS‐Mendel, Rome, Italy<address><country key="IT"></country></address></affiliation><affiliation>Ageing Research Centre, CESI, “G. d’Annunzio” University Foundation, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">A</forename><surname>Mohn</surname></persName><affiliation>Department of Pediatrics “G. d’Annunzio” University, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">A</forename><surname>Di Muzio</surname></persName><affiliation>Ageing Research Centre, CESI, “G. d’Annunzio” University Foundation, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">O</forename><surname>Calabrese</surname></persName><affiliation>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">A</forename><surname>Huebner</surname></persName><affiliation>Children's Hospital, Technical University Dresden, Dresden, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">D</forename><surname>De Grandis</surname></persName><affiliation>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">F</forename><surname>Chiarelli</surname></persName><affiliation>Department of Pediatrics “G. d’Annunzio” University, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">A</forename><surname>Ferlini</surname></persName><affiliation>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy<address><country key="IT"></country></address></affiliation></author><author xml:id="author-0010" role="corresp"><persName><forename type="first">L</forename><surname>Stuppia</surname></persName><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation><affiliation>Ageing Research Centre, CESI, “G. d’Annunzio” University Foundation, Chieti‐Pescara, Italy<address><country key="IT"></country></address></affiliation><affiliation>IGM CNR, Bologna, Italy<address><country key="IT"></country></address></affiliation><affiliation>Professor Liborio Stuppia
Department of Biomedical Sciences
University “G. D’Annunzio”
Via dei Vestini 35
66013 Chieti
Italy
Tel.: +39 0871 3554137
Fax: +39 0871 3554133
e‐mail: stuppia@unich.it</affiliation></author><idno type="istex">F42255861FDFEB523CC0DDAA692F294B2FCAD44B</idno><idno type="ark">ark:/67375/WNG-CVK3JKQS-L</idno><idno type="DOI">10.1111/j.1399-0004.2009.01348.x</idno><idno type="unit">CGE1348</idno><idno type="toTypesetVersion">file:CGE.CGE1348.pdf</idno></analytic><monogr><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="pISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><idno type="book-DOI">10.1111/(ISSN)1399-0004</idno><idno type="book-part-DOI">10.1111/cge.2010.77.issue-3</idno><idno type="product">CGE</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">77</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="298">298</biblScope><biblScope unit="page" to="301">301</biblScope><biblScope unit="page-count">4</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2010-03"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/F42255861FDFEB523CC0DDAA692F294B2FCAD44B/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)1399-0004</doi><issn type="print">0009-9163</issn><issn type="electronic">1399-0004</issn><idGroup><id type="product" value="CGE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="CLINICAL GENETICS">Clinical Genetics</title></titleGroup></publicationMeta><publicationMeta level="part" position="03003"><doi origin="wiley">10.1111/cge.2010.77.issue-3</doi><numberingGroup><numbering type="journalVolume" number="77">77</numbering><numbering type="journalIssue" number="3">3</numbering></numberingGroup><coverDate startDate="2010-03">March 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="16" status="forIssue"><doi origin="wiley">10.1111/j.1399-0004.2009.01348.x</doi><idGroup><id type="unit" value="CGE1348"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="tocHeading1">Letters to the Editor</title></titleGroup><copyright>© 2010 John Wiley & Sons A/S</copyright><eventGroup><event type="firstOnline" date="2010-02-23"></event><event type="publishedOnlineFinalForm" date="2010-02-23"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:HeaderRef result:HeaderRef" date="2010-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-09"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="298">298</numbering><numbering type="pageLast" number="301">301</numbering></numberingGroup><correspondenceTo>Professor Liborio Stuppia
Department of Biomedical Sciences
University “G. D’Annunzio”
Via dei Vestini 35
66013 Chieti
Italy
Tel.: +39 0871 3554137
Fax: +39 0871 3554133
e‐mail: <email>stuppia@unich.it</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:CGE.CGE1348.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="17"></count></countGroup><titleGroup><title type="main">Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome</title><title type="shortAuthors">Letter to the Editor</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>C</givenNames><familyName>Palka</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>R</givenNames><familyName>Giuliani</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a1 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syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome</title></titleInfo><name type="personal"><namePart type="given">C</namePart><namePart type="family">Palka</namePart><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R</namePart><namePart type="family">Giuliani</namePart><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F</namePart><namePart type="family">Brancati</namePart><affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, 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