Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Identifieur interne : 007902 ( Istex/Curation ); précédent : 007901; suivant : 007903Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Auteurs : C. Palka [Italie] ; R. Giuliani [Italie] ; F. Brancati [Italie] ; A. Mohn [Italie] ; A. Di Muzio [Italie] ; O. Calabrese [Italie] ; A. Huebner [Allemagne] ; D. De Grandis [Italie] ; F. Chiarelli [Italie] ; A. Ferlini [Italie] ; L. Stuppia [Italie]Source :
- 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
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Calabrese</name><affiliation wicri:level="1"><mods:affiliation>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara</wicri:regionArea></affiliation></author><author><name sortKey="Huebner, A" sort="Huebner, A" uniqKey="Huebner A" first="A" last="Huebner">A. Huebner</name><affiliation wicri:level="1"><mods:affiliation>Children's Hospital, Technical University Dresden, Dresden, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Children's Hospital, Technical University Dresden, Dresden</wicri:regionArea></affiliation></author><author><name sortKey="De Grandis, D" sort="De Grandis, D" uniqKey="De Grandis D" first="D" last="De Grandis">D. 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Ferlini</name><affiliation wicri:level="1"><mods:affiliation>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental and Diagnostic Medicine, Section of Medical Genetics, University of Ferrara, Ferrara</wicri:regionArea></affiliation></author><author><name sortKey="Stuppia, L" sort="Stuppia, L" uniqKey="Stuppia L" first="L" last="Stuppia">L. Stuppia</name><affiliation wicri:level="1"><mods:affiliation>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biomedical Sciences, “G. d’Annunzio” University, Chieti‐Pescara</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Ageing Research Centre, CESI, “G. d’Annunzio” University Foundation, Chieti‐Pescara, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ageing Research Centre, CESI, “G. d’Annunzio” University Foundation, Chieti‐Pescara</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>IGM CNR, Bologna, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>IGM CNR, Bologna</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: stuppia@unich.it</mods:affiliation><country wicri:rule="url">Italie</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</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">2010-03</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aaa</term><term>Aaas gene</term><term>Achalasia</term><term>Alacrimia</term><term>Aladin</term><term>Allgrove</term><term>Allgrove syndrome</term><term>Cell biol</term><term>Clin</term><term>Clin genet</term><term>Distal muscles</term><term>Edentulism</term><term>Generalized weakness</term><term>Genet</term><term>Hypotrophy</term><term>Intrinsic hand muscles</term><term>Malar hypoplasia</term><term>Mutation</term><term>Nasal speech</term><term>Normal parameters</term><term>Novel aaas mutation</term><term>Nuclear pore</term><term>Phenotypic spectrum</term><term>Pore</term><term>Schirmer test alacrimia</term><term>Scrotal tongue</term><term>Syndrome</term><term>Thin legs</term><term>Uneventful pregnancy</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Aaa</term><term>Aaas gene</term><term>Achalasia</term><term>Alacrimia</term><term>Aladin</term><term>Allgrove</term><term>Allgrove syndrome</term><term>Cell biol</term><term>Clin</term><term>Clin genet</term><term>Distal muscles</term><term>Edentulism</term><term>Generalized weakness</term><term>Genet</term><term>Hypotrophy</term><term>Intrinsic hand muscles</term><term>Malar hypoplasia</term><term>Mutation</term><term>Nasal speech</term><term>Normal parameters</term><term>Novel aaas mutation</term><term>Nuclear pore</term><term>Phenotypic spectrum</term><term>Pore</term><term>Schirmer test alacrimia</term><term>Scrotal tongue</term><term>Syndrome</term><term>Thin legs</term><term>Uneventful pregnancy</term></keywords></textClass></profileDesc></teiHeader></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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