Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Identifieur interne : 000452 ( Main/Exploration ); précédent : 000451; suivant : 000453Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
Auteurs : Smail Hadj-Rabia [France] ; Bert L. Callewaert [Belgique] ; Emmanuelle Bourrat [France] ; Marlies Kempers [Pays-Bas] ; Astrid S. Plomp [Pays-Bas] ; Valerie Layet [France] ; Deborah Bartholdi [Suisse] ; Marjolijn Renard [Belgique] ; Julie De Backer [Belgique] ; Fransiska Malfait [Belgique] ; Olivier M. Vanakker [Belgique] ; Paul J. Coucke [Belgique] ; Anne M. De Paepe [Belgique] ; Christine Bodemer [France]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2013.
English descriptors
- mix :
Abstract
Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3’ region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported.
We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient.
Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). This cohort confirms the previously reported clinical constellation of skin laxity (100%), inguinal hernias (51%), aortic root dilatation (55%) and emphysema (37%).
ADCL is a clinically and molecularly homogeneous disorder, but intra- and interfamilial variability in the severity of organ involvement needs to be taken into account. Regular cardiovascular and pulmonary evaluations are imperative in the clinical follow-up of these patients.
Url:
DOI: 10.1186/1750-1172-8-36
PubMed: 23442826
PubMed Central: 3599008
Affiliations:
- Belgique, France, Pays-Bas, Suisse
- Canton de Zurich, Gueldre, Hollande-Septentrionale
- Amsterdam, Le Havre, Nimègue, Paris, Zurich
- Université de Zurich
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000166
- to stream Pmc, to step Curation: 000164
- to stream Pmc, to step Checkpoint: 000059
- to stream Ncbi, to step Merge: 000349
- to stream Ncbi, to step Curation: 000349
- to stream Ncbi, to step Checkpoint: 000349
- to stream Hal, to step Corpus: 000359
- to stream Hal, to step Curation: 000359
- to stream Hal, to step Checkpoint: 000242
- to stream Main, to step Merge: 000451
- to stream Main, to step Curation: 000452
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity</title><author><name sortKey="Hadj Rabia, Smail" sort="Hadj Rabia, Smail" uniqKey="Hadj Rabia S" first="Smail" last="Hadj-Rabia">Smail Hadj-Rabia</name><affiliation wicri:level="1"><nlm:aff id="I1">Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Callewaert, Bert L" sort="Callewaert, Bert L" uniqKey="Callewaert B" first="Bert L" last="Callewaert">Bert L. Callewaert</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Bourrat, Emmanuelle" sort="Bourrat, Emmanuelle" uniqKey="Bourrat E" first="Emmanuelle" last="Bourrat">Emmanuelle Bourrat</name><affiliation wicri:level="1"><nlm:aff id="I3">Service de Dermatologie, MAGEC Hôpital Saint-Louis, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, MAGEC Hôpital Saint-Louis, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kempers, Marlies" sort="Kempers, Marlies" uniqKey="Kempers M" first="Marlies" last="Kempers">Marlies Kempers</name><affiliation wicri:level="3"><nlm:aff id="I4">University Medical Center St. Radboud, Nijmegen, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University Medical Center St. Radboud, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Plomp, Astrid S" sort="Plomp, Astrid S" uniqKey="Plomp A" first="Astrid S" last="Plomp">Astrid S. Plomp</name><affiliation wicri:level="3"><nlm:aff id="I5">Academic Medical Center, Amsterdam, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valerie" last="Layet">Valerie Layet</name><affiliation wicri:level="1"><nlm:aff id="I6">Groupe Hospitalier Du Havre – Department of Medical Genetics, Le Havre, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Groupe Hospitalier Du Havre – Department of Medical Genetics, Le Havre</wicri:regionArea><placeName><settlement type="city">Le Havre</settlement></placeName></affiliation></author><author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><affiliation wicri:level="4"><nlm:aff id="I7">Institute of Medical Genetics, University of Zürich, Zürich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zürich, Zürich</wicri:regionArea><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Backer, Julie De" sort="Backer, Julie De" uniqKey="Backer J" first="Julie De" last="Backer">Julie De Backer</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Malfait, Fransiska" sort="Malfait, Fransiska" uniqKey="Malfait F" first="Fransiska" last="Malfait">Fransiska Malfait</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Coucke, Paul J" sort="Coucke, Paul J" uniqKey="Coucke P" first="Paul J" last="Coucke">Paul J. Coucke</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="De Paepe, Anne M" sort="De Paepe, Anne M" uniqKey="De Paepe A" first="Anne M" last="De Paepe">Anne M. De Paepe</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><affiliation wicri:level="1"><nlm:aff id="I1">Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23442826</idno><idno type="pmc">3599008</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599008</idno><idno type="RBID">PMC:3599008</idno><idno type="doi">10.1186/1750-1172-8-36</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">000166</idno><idno type="wicri:Area/Pmc/Curation">000164</idno><idno type="wicri:Area/Pmc/Checkpoint">000059</idno><idno type="wicri:Area/Ncbi/Merge">000349</idno><idno type="wicri:Area/Ncbi/Curation">000349</idno><idno type="wicri:Area/Ncbi/Checkpoint">000349</idno><idno type="wicri:source">HAL</idno><idno type="RBID">Hal:inserm-00798332</idno><idno type="url">http://www.hal.inserm.fr/inserm-00798332</idno><idno type="wicri:Area/Hal/Corpus">000359</idno><idno type="wicri:Area/Hal/Curation">000359</idno><idno type="wicri:Area/Hal/Checkpoint">000242</idno><idno type="wicri:doubleKey">1750-1172:2013:Hadj Rabia S:twenty:patients:including</idno><idno type="wicri:Area/Main/Merge">000451</idno><idno type="wicri:Area/Main/Curation">000452</idno><idno type="wicri:Area/Main/Exploration">000452</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity</title><author><name sortKey="Hadj Rabia, Smail" sort="Hadj Rabia, Smail" uniqKey="Hadj Rabia S" first="Smail" last="Hadj-Rabia">Smail Hadj-Rabia</name><affiliation wicri:level="1"><nlm:aff id="I1">Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Callewaert, Bert L" sort="Callewaert, Bert L" uniqKey="Callewaert B" first="Bert L" last="Callewaert">Bert L. Callewaert</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Bourrat, Emmanuelle" sort="Bourrat, Emmanuelle" uniqKey="Bourrat E" first="Emmanuelle" last="Bourrat">Emmanuelle Bourrat</name><affiliation wicri:level="1"><nlm:aff id="I3">Service de Dermatologie, MAGEC Hôpital Saint-Louis, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, MAGEC Hôpital Saint-Louis, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Kempers, Marlies" sort="Kempers, Marlies" uniqKey="Kempers M" first="Marlies" last="Kempers">Marlies Kempers</name><affiliation wicri:level="3"><nlm:aff id="I4">University Medical Center St. Radboud, Nijmegen, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>University Medical Center St. Radboud, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Plomp, Astrid S" sort="Plomp, Astrid S" uniqKey="Plomp A" first="Astrid S" last="Plomp">Astrid S. Plomp</name><affiliation wicri:level="3"><nlm:aff id="I5">Academic Medical Center, Amsterdam, the Netherlands</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Academic Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valerie" last="Layet">Valerie Layet</name><affiliation wicri:level="1"><nlm:aff id="I6">Groupe Hospitalier Du Havre – Department of Medical Genetics, Le Havre, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Groupe Hospitalier Du Havre – Department of Medical Genetics, Le Havre</wicri:regionArea><placeName><settlement type="city">Le Havre</settlement></placeName></affiliation></author><author><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name><affiliation wicri:level="4"><nlm:aff id="I7">Institute of Medical Genetics, University of Zürich, Zürich, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zürich, Zürich</wicri:regionArea><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName><orgName type="university">Université de Zurich</orgName></affiliation></author><author><name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Backer, Julie De" sort="Backer, Julie De" uniqKey="Backer J" first="Julie De" last="Backer">Julie De Backer</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Malfait, Fransiska" sort="Malfait, Fransiska" uniqKey="Malfait F" first="Fransiska" last="Malfait">Fransiska Malfait</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Coucke, Paul J" sort="Coucke, Paul J" uniqKey="Coucke P" first="Paul J" last="Coucke">Paul J. Coucke</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="De Paepe, Anne M" sort="De Paepe, Anne M" uniqKey="De Paepe A" first="Anne M" last="De Paepe">Anne M. De Paepe</name><affiliation wicri:level="1"><nlm:aff id="I2">Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent, Belgium</nlm:aff><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Medical Genetics, Ghent University Hospital, De Pintelaan 185, B-9000, Ghent</wicri:regionArea><wicri:noRegion>Ghent</wicri:noRegion></affiliation></author><author><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><affiliation wicri:level="1"><nlm:aff id="I1">Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie – Centre de référence national des Maladies Génétiques à Expression Cutanée (MAGEC), INSERM U781, Hôpital Necker - Enfants Malades, Université Paris V-Descartes, 149, rue de Sèvres 75743 Paris Cedex 15, Paris</wicri:regionArea><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="mix" xml:lang="en"><term>Autosomal dominant cutis laxa</term><term>ELN</term><term>Elastin</term><term>Genotype</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Elastin gene mutations have been associated with a variety of phenotypes. Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary emphysema. In most patients, frameshift mutations are found in the 3’ region of the elastin gene (exons 30-34) which result in a C-terminally extended protein, though exceptions have been reported.</p></sec><sec><title>Methods</title><p>We clinically and molecularly characterized the thus far largest cohort of ADCL patients, consisting of 19 patients from six families and one sporadic patient.</p></sec><sec><title>Results</title><p>Molecular analysis showed C-terminal frameshift mutations in exon 30, 32, and 34 of the elastin gene and identified a mutational hotspot in exon 32 (c.2262delA). This cohort confirms the previously reported clinical constellation of skin laxity (100%), inguinal hernias (51%), aortic root dilatation (55%) and emphysema (37%).</p></sec><sec><title>Conclusion</title><p>ADCL is a clinically and molecularly homogeneous disorder, but intra- and interfamilial variability in the severity of organ involvement needs to be taken into account. Regular cardiovascular and pulmonary evaluations are imperative in the clinical follow-up of these patients.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Ewart, Ak" uniqKey="Ewart A">AK Ewart</name></author><author><name sortKey="Morris, Ca" uniqKey="Morris C">CA Morris</name></author><author><name sortKey="Atkinson, D" uniqKey="Atkinson D">D Atkinson</name></author><author><name sortKey="Jin, W" uniqKey="Jin W">W Jin</name></author><author><name sortKey="Sternes, K" uniqKey="Sternes K">K Sternes</name></author><author><name sortKey="Spallone, P" uniqKey="Spallone P">P Spallone</name></author><author><name sortKey="Stock, Ad" uniqKey="Stock A">AD Stock</name></author><author><name sortKey="Leppert, M" uniqKey="Leppert M">M Leppert</name></author><author><name sortKey="Keating, Mt" uniqKey="Keating M">MT Keating</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Curran, Me" uniqKey="Curran M">ME Curran</name></author><author><name sortKey="Atkinson, Dl" uniqKey="Atkinson D">DL Atkinson</name></author><author><name sortKey="Ewart, Ak" uniqKey="Ewart A">AK Ewart</name></author><author><name sortKey="Morris, Ca" uniqKey="Morris C">CA Morris</name></author><author><name sortKey="Leppert, Mf" uniqKey="Leppert M">MF Leppert</name></author><author><name sortKey="Keating, Mt" uniqKey="Keating M">MT Keating</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Callewaert, B" uniqKey="Callewaert B">B Callewaert</name></author><author><name sortKey="Renard, M" uniqKey="Renard M">M Renard</name></author><author><name sortKey="Hucthagowder, V" uniqKey="Hucthagowder V">V Hucthagowder</name></author><author><name sortKey="Albrecht, B" uniqKey="Albrecht B">B Albrecht</name></author><author><name sortKey="Hausser, I" uniqKey="Hausser I">I Hausser</name></author><author><name sortKey="Blair, E" uniqKey="Blair E">E Blair</name></author><author><name sortKey="Dias, C" uniqKey="Dias C">C Dias</name></author><author><name sortKey="Albino, A" uniqKey="Albino A">A Albino</name></author><author><name sortKey="Wachi, H" uniqKey="Wachi H">H Wachi</name></author><author><name sortKey="Sato, F" uniqKey="Sato F">F Sato</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rodriguez Revenga, L" uniqKey="Rodriguez Revenga L">L Rodriguez-Revenga</name></author><author><name sortKey="Iranzo, P" uniqKey="Iranzo P">P Iranzo</name></author><author><name sortKey="Badenas, C" uniqKey="Badenas C">C Badenas</name></author><author><name sortKey="Puig, S" uniqKey="Puig S">S Puig</name></author><author><name sortKey="Carrio, A" uniqKey="Carrio A">A Carrio</name></author><author><name sortKey="Mila, M" uniqKey="Mila M">M Mila</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Szabo, Z" uniqKey="Szabo Z">Z Szabo</name></author><author><name sortKey="Crepeau, Mw" uniqKey="Crepeau M">MW Crepeau</name></author><author><name sortKey="Mitchell, Al" uniqKey="Mitchell A">AL Mitchell</name></author><author><name sortKey="Stephan, Mj" uniqKey="Stephan M">MJ Stephan</name></author><author><name sortKey="Puntel, Ra" uniqKey="Puntel R">RA Puntel</name></author><author><name sortKey="Yin Loke, K" uniqKey="Yin Loke K">K Yin Loke</name></author><author><name sortKey="Kirk, Rc" uniqKey="Kirk R">RC Kirk</name></author><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tassabehji, M" uniqKey="Tassabehji M">M Tassabehji</name></author><author><name sortKey="Metcalfe, K" uniqKey="Metcalfe K">K Metcalfe</name></author><author><name sortKey="Hurst, J" uniqKey="Hurst J">J Hurst</name></author><author><name sortKey="Ashcroft, Gs" uniqKey="Ashcroft G">GS Ashcroft</name></author><author><name sortKey="Kielty, C" uniqKey="Kielty C">C Kielty</name></author><author><name sortKey="Wilmot, C" uniqKey="Wilmot C">C Wilmot</name></author><author><name sortKey="Donnai, D" uniqKey="Donnai D">D Donnai</name></author><author><name sortKey="Read, Ap" uniqKey="Read A">AP Read</name></author><author><name sortKey="Jones, Cj" uniqKey="Jones C">CJ Jones</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author><author><name sortKey="Gao, J" uniqKey="Gao J">J Gao</name></author><author><name sortKey="Pope, Fm" uniqKey="Pope F">FM Pope</name></author><author><name sortKey="Davis, Ec" uniqKey="Davis E">EC Davis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zhang, Mc" uniqKey="Zhang M">MC Zhang</name></author><author><name sortKey="He, L" uniqKey="He L">L He</name></author><author><name sortKey="Giro, M" uniqKey="Giro M">M Giro</name></author><author><name sortKey="Yong, Sl" uniqKey="Yong S">SL Yong</name></author><author><name sortKey="Tiller, Ge" uniqKey="Tiller G">GE Tiller</name></author><author><name sortKey="Davidson, Jm" uniqKey="Davidson J">JM Davidson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pober, Br" uniqKey="Pober B">BR Pober</name></author><author><name sortKey="Johnson, M" uniqKey="Johnson M">M Johnson</name></author><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Graul Neumann, Lm" uniqKey="Graul Neumann L">LM Graul-Neumann</name></author><author><name sortKey="Hausser, I" uniqKey="Hausser I">I Hausser</name></author><author><name sortKey="Essayie, M" uniqKey="Essayie M">M Essayie</name></author><author><name sortKey="Rauch, A" uniqKey="Rauch A">A Rauch</name></author><author><name sortKey="Kraus, C" uniqKey="Kraus C">C Kraus</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Markova, D" uniqKey="Markova D">D Markova</name></author><author><name sortKey="Zou, Y" uniqKey="Zou Y">Y Zou</name></author><author><name sortKey="Ringpfeil, F" uniqKey="Ringpfeil F">F Ringpfeil</name></author><author><name sortKey="Sasaki, T" uniqKey="Sasaki T">T Sasaki</name></author><author><name sortKey="Kostka, G" uniqKey="Kostka G">G Kostka</name></author><author><name sortKey="Timpl, R" uniqKey="Timpl R">R Timpl</name></author><author><name sortKey="Uitto, J" uniqKey="Uitto J">J Uitto</name></author><author><name sortKey="Chu, Ml" uniqKey="Chu M">ML Chu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kelleher, Cm" uniqKey="Kelleher C">CM Kelleher</name></author><author><name sortKey="Silverman, Ek" uniqKey="Silverman E">EK Silverman</name></author><author><name sortKey="Broekelmann, T" uniqKey="Broekelmann T">T Broekelmann</name></author><author><name sortKey="Litonjua, Aa" uniqKey="Litonjua A">AA Litonjua</name></author><author><name sortKey="Hernandez, M" uniqKey="Hernandez M">M Hernandez</name></author><author><name sortKey="Sylvia, Js" uniqKey="Sylvia J">JS Sylvia</name></author><author><name sortKey="Stoler, J" uniqKey="Stoler J">J Stoler</name></author><author><name sortKey="Reilly, Jj" uniqKey="Reilly J">JJ Reilly</name></author><author><name sortKey="Chapman, Ha" uniqKey="Chapman H">HA Chapman</name></author><author><name sortKey="Speizer, Fe" uniqKey="Speizer F">FE Speizer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hu, Q" uniqKey="Hu Q">Q Hu</name></author><author><name sortKey="Reymond, Jl" uniqKey="Reymond J">JL Reymond</name></author><author><name sortKey="Pinel, N" uniqKey="Pinel N">N Pinel</name></author><author><name sortKey="Zabot, Mt" uniqKey="Zabot M">MT Zabot</name></author><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Megarbane, H" uniqKey="Megarbane H">H Megarbane</name></author><author><name sortKey="Florence, J" uniqKey="Florence J">J Florence</name></author><author><name sortKey="Oliver Sass, J" uniqKey="Oliver Sass J">J Oliver Sass</name></author><author><name sortKey="Schwonbeck, S" uniqKey="Schwonbeck S">S Schwonbeck</name></author><author><name sortKey="Foglio, M" uniqKey="Foglio M">M Foglio</name></author><author><name sortKey="De Cid, R" uniqKey="De Cid R">R de Cid</name></author><author><name sortKey="Cure, S" uniqKey="Cure S">S Cure</name></author><author><name sortKey="Saker, S" uniqKey="Saker S">S Saker</name></author><author><name sortKey="Megarbane, A" uniqKey="Megarbane A">A Megarbane</name></author><author><name sortKey="Fischer, J" uniqKey="Fischer J">J Fischer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Loeys, Bl" uniqKey="Loeys B">BL Loeys</name></author><author><name sortKey="Dietz, Hc" uniqKey="Dietz H">HC Dietz</name></author><author><name sortKey="Braverman, Ac" uniqKey="Braverman A">AC Braverman</name></author><author><name sortKey="Callewaert, Bl" uniqKey="Callewaert B">BL Callewaert</name></author><author><name sortKey="De Backer, J" uniqKey="De Backer J">J De Backer</name></author><author><name sortKey="Devereux, Rb" uniqKey="Devereux R">RB Devereux</name></author><author><name sortKey="Hilhorst Hofstee, Y" uniqKey="Hilhorst Hofstee Y">Y Hilhorst-Hofstee</name></author><author><name sortKey="Jondeau, G" uniqKey="Jondeau G">G Jondeau</name></author><author><name sortKey="Faivre, L" uniqKey="Faivre L">L Faivre</name></author><author><name sortKey="Milewicz, Dm" uniqKey="Milewicz D">DM Milewicz</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kornak, U" uniqKey="Kornak U">U Kornak</name></author><author><name sortKey="Reynders, E" uniqKey="Reynders E">E Reynders</name></author><author><name sortKey="Dimopoulou, A" uniqKey="Dimopoulou A">A Dimopoulou</name></author><author><name sortKey="Van Reeuwijk, J" uniqKey="Van Reeuwijk J">J van Reeuwijk</name></author><author><name sortKey="Fischer, B" uniqKey="Fischer B">B Fischer</name></author><author><name sortKey="Rajab, A" uniqKey="Rajab A">A Rajab</name></author><author><name sortKey="Budde, B" uniqKey="Budde B">B Budde</name></author><author><name sortKey="Nurnberg, P" uniqKey="Nurnberg P">P Nurnberg</name></author><author><name sortKey="Foulquier, F" uniqKey="Foulquier F">F Foulquier</name></author><author><name sortKey="Lefeber, D" uniqKey="Lefeber D">D Lefeber</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Reversade, B" uniqKey="Reversade B">B Reversade</name></author><author><name sortKey="Escande Beillard, N" uniqKey="Escande Beillard N">N Escande-Beillard</name></author><author><name sortKey="Dimopoulou, A" uniqKey="Dimopoulou A">A Dimopoulou</name></author><author><name sortKey="Fischer, B" uniqKey="Fischer B">B Fischer</name></author><author><name sortKey="Chng, Sc" uniqKey="Chng S">SC Chng</name></author><author><name sortKey="Li, Y" uniqKey="Li Y">Y Li</name></author><author><name sortKey="Shboul, M" uniqKey="Shboul M">M Shboul</name></author><author><name sortKey="Tham, Py" uniqKey="Tham P">PY Tham</name></author><author><name sortKey="Kayserili, H" uniqKey="Kayserili H">H Kayserili</name></author><author><name sortKey="Al Gazali, L" uniqKey="Al Gazali L">L Al-Gazali</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Callewaert, B" uniqKey="Callewaert B">B Callewaert</name></author><author><name sortKey="Su, Ct" uniqKey="Su C">CT Su</name></author><author><name sortKey="Van Damme, T" uniqKey="Van Damme T">T Van Damme</name></author><author><name sortKey="Vlummens, P" uniqKey="Vlummens P">P Vlummens</name></author><author><name sortKey="Malfait, F" uniqKey="Malfait F">F Malfait</name></author><author><name sortKey="Vanakker, O" uniqKey="Vanakker O">O Vanakker</name></author><author><name sortKey="Schulz, B" uniqKey="Schulz B">B Schulz</name></author><author><name sortKey="Mac Neal, M" uniqKey="Mac Neal M">M Mac Neal</name></author><author><name sortKey="Davis, Ec" uniqKey="Davis E">EC Davis</name></author><author><name sortKey="Lee, Jg" uniqKey="Lee J">JG Lee</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Renard, M" uniqKey="Renard M">M Renard</name></author><author><name sortKey="Holm, T" uniqKey="Holm T">T Holm</name></author><author><name sortKey="Veith, R" uniqKey="Veith R">R Veith</name></author><author><name sortKey="Callewaert, Bl" uniqKey="Callewaert B">BL Callewaert</name></author><author><name sortKey="Ades, Lc" uniqKey="Ades L">LC Ades</name></author><author><name sortKey="Baspinar, O" uniqKey="Baspinar O">O Baspinar</name></author><author><name sortKey="Pickart, A" uniqKey="Pickart A">A Pickart</name></author><author><name sortKey="Dasouki, M" uniqKey="Dasouki M">M Dasouki</name></author><author><name sortKey="Hoyer, J" uniqKey="Hoyer J">J Hoyer</name></author><author><name sortKey="Rauch, A" uniqKey="Rauch A">A Rauch</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hucthagowder, V" uniqKey="Hucthagowder V">V Hucthagowder</name></author><author><name sortKey="Sausgruber, N" uniqKey="Sausgruber N">N Sausgruber</name></author><author><name sortKey="Kim, Kh" uniqKey="Kim K">KH Kim</name></author><author><name sortKey="Angle, B" uniqKey="Angle B">B Angle</name></author><author><name sortKey="Marmorstein, Ly" uniqKey="Marmorstein L">LY Marmorstein</name></author><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Loeys, B" uniqKey="Loeys B">B Loeys</name></author><author><name sortKey="Van Maldergem, L" uniqKey="Van Maldergem L">L Van Maldergem</name></author><author><name sortKey="Mortier, G" uniqKey="Mortier G">G Mortier</name></author><author><name sortKey="Coucke, P" uniqKey="Coucke P">P Coucke</name></author><author><name sortKey="Gerniers, S" uniqKey="Gerniers S">S Gerniers</name></author><author><name sortKey="Naeyaert, Jm" uniqKey="Naeyaert J">JM Naeyaert</name></author><author><name sortKey="De Paepe, A" uniqKey="De Paepe A">A De Paepe</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author><author><name sortKey="Hucthagowder, V" uniqKey="Hucthagowder V">V Hucthagowder</name></author><author><name sortKey="Schurmann, N" uniqKey="Schurmann N">N Schurmann</name></author><author><name sortKey="Todorovic, V" uniqKey="Todorovic V">V Todorovic</name></author><author><name sortKey="Zilberberg, L" uniqKey="Zilberberg L">L Zilberberg</name></author><author><name sortKey="Choi, J" uniqKey="Choi J">J Choi</name></author><author><name sortKey="Sens, C" uniqKey="Sens C">C Sens</name></author><author><name sortKey="Brown, Cw" uniqKey="Brown C">CW Brown</name></author><author><name sortKey="Clark, Rd" uniqKey="Clark R">RD Clark</name></author><author><name sortKey="Holland, Ke" uniqKey="Holland K">KE Holland</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Arlt, G" uniqKey="Arlt G">G Arlt</name></author><author><name sortKey="Brooks, Da" uniqKey="Brooks D">DA Brooks</name></author><author><name sortKey="Isbrandt, D" uniqKey="Isbrandt D">D Isbrandt</name></author><author><name sortKey="Hopwood, Jj" uniqKey="Hopwood J">JJ Hopwood</name></author><author><name sortKey="Bielicki, J" uniqKey="Bielicki J">J Bielicki</name></author><author><name sortKey="Bradford, Tm" uniqKey="Bradford T">TM Bradford</name></author><author><name sortKey="Bindloss Petherbridge, Ca" uniqKey="Bindloss Petherbridge C">CA Bindloss-Petherbridge</name></author><author><name sortKey="Von Figura, K" uniqKey="Von Figura K">K von Figura</name></author><author><name sortKey="Peters, C" uniqKey="Peters C">C Peters</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Choi, By" uniqKey="Choi B">BY Choi</name></author><author><name sortKey="Kim, Dh" uniqKey="Kim D">DH Kim</name></author><author><name sortKey="Chung, T" uniqKey="Chung T">T Chung</name></author><author><name sortKey="Chang, M" uniqKey="Chang M">M Chang</name></author><author><name sortKey="Kim, Eh" uniqKey="Kim E">EH Kim</name></author><author><name sortKey="Kim, Ar" uniqKey="Kim A">AR Kim</name></author><author><name sortKey="Seok, J" uniqKey="Seok J">J Seok</name></author><author><name sortKey="Chang, So" uniqKey="Chang S">SO Chang</name></author><author><name sortKey="Bok, J" uniqKey="Bok J">J Bok</name></author><author><name sortKey="Kim, D" uniqKey="Kim D">D Kim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dickey, Dm" uniqKey="Dickey D">DM Dickey</name></author><author><name sortKey="Yoder, Ar" uniqKey="Yoder A">AR Yoder</name></author><author><name sortKey="Potter, Lr" uniqKey="Potter L">LR Potter</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Komaru, K" uniqKey="Komaru K">K Komaru</name></author><author><name sortKey="Ishida, Y" uniqKey="Ishida Y">Y Ishida</name></author><author><name sortKey="Amaya, Y" uniqKey="Amaya Y">Y Amaya</name></author><author><name sortKey="Goseki Sone, M" uniqKey="Goseki Sone M">M Goseki-Sone</name></author><author><name sortKey="Orimo, H" uniqKey="Orimo H">H Orimo</name></author><author><name sortKey="Oda, K" uniqKey="Oda K">K Oda</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Soldovieri, Mv" uniqKey="Soldovieri M">MV Soldovieri</name></author><author><name sortKey="Castaldo, P" uniqKey="Castaldo P">P Castaldo</name></author><author><name sortKey="Iodice, L" uniqKey="Iodice L">L Iodice</name></author><author><name sortKey="Miceli, F" uniqKey="Miceli F">F Miceli</name></author><author><name sortKey="Barrese, V" uniqKey="Barrese V">V Barrese</name></author><author><name sortKey="Bellini, G" uniqKey="Bellini G">G Bellini</name></author><author><name sortKey="Miraglia Del Giudice, E" uniqKey="Miraglia Del Giudice E">E Miraglia del Giudice</name></author><author><name sortKey="Pascotto, A" uniqKey="Pascotto A">A Pascotto</name></author><author><name sortKey="Bonatti, S" uniqKey="Bonatti S">S Bonatti</name></author><author><name sortKey="Annunziato, L" uniqKey="Annunziato L">L Annunziato</name></author><author><name sortKey="Taglialatela, M" uniqKey="Taglialatela M">M Taglialatela</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bohm, J" uniqKey="Bohm J">J Bohm</name></author><author><name sortKey="Heinritz, W" uniqKey="Heinritz W">W Heinritz</name></author><author><name sortKey="Craig, A" uniqKey="Craig A">A Craig</name></author><author><name sortKey="Vujic, M" uniqKey="Vujic M">M Vujic</name></author><author><name sortKey="Ekman Joelsson, Bm" uniqKey="Ekman Joelsson B">BM Ekman-Joelsson</name></author><author><name sortKey="Kohlhase, J" uniqKey="Kohlhase J">J Kohlhase</name></author><author><name sortKey="Froster, U" uniqKey="Froster U">U Froster</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Colige, A" uniqKey="Colige A">A Colige</name></author><author><name sortKey="Sieron, Al" uniqKey="Sieron A">AL Sieron</name></author><author><name sortKey="Li, Sw" uniqKey="Li S">SW Li</name></author><author><name sortKey="Schwarze, U" uniqKey="Schwarze U">U Schwarze</name></author><author><name sortKey="Petty, E" uniqKey="Petty E">E Petty</name></author><author><name sortKey="Wertelecki, W" uniqKey="Wertelecki W">W Wertelecki</name></author><author><name sortKey="Wilcox, W" uniqKey="Wilcox W">W Wilcox</name></author><author><name sortKey="Krakow, D" uniqKey="Krakow D">D Krakow</name></author><author><name sortKey="Cohn, Dh" uniqKey="Cohn D">DH Cohn</name></author><author><name sortKey="Reardon, W" uniqKey="Reardon W">W Reardon</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Smith, Lt" uniqKey="Smith L">LT Smith</name></author><author><name sortKey="Wertelecki, W" uniqKey="Wertelecki W">W Wertelecki</name></author><author><name sortKey="Milstone, Lm" uniqKey="Milstone L">LM Milstone</name></author><author><name sortKey="Petty, Em" uniqKey="Petty E">EM Petty</name></author><author><name sortKey="Seashore, Mr" uniqKey="Seashore M">MR Seashore</name></author><author><name sortKey="Braverman, Im" uniqKey="Braverman I">IM Braverman</name></author><author><name sortKey="Jenkins, Tg" uniqKey="Jenkins T">TG Jenkins</name></author><author><name sortKey="Byers, Ph" uniqKey="Byers P">PH Byers</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hu, Q" uniqKey="Hu Q">Q Hu</name></author><author><name sortKey="Loeys, Bl" uniqKey="Loeys B">BL Loeys</name></author><author><name sortKey="Coucke, Pj" uniqKey="Coucke P">PJ Coucke</name></author><author><name sortKey="De Paepe, A" uniqKey="De Paepe A">A De Paepe</name></author><author><name sortKey="Mecham, Rp" uniqKey="Mecham R">RP Mecham</name></author><author><name sortKey="Choi, J" uniqKey="Choi J">J Choi</name></author><author><name sortKey="Davis, Ec" uniqKey="Davis E">EC Davis</name></author><author><name sortKey="Urban, Z" uniqKey="Urban Z">Z Urban</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Belgique</li><li>France</li><li>Pays-Bas</li><li>Suisse</li></country><region><li>Canton de Zurich</li><li>Gueldre</li><li>Hollande-Septentrionale</li></region><settlement><li>Amsterdam</li><li>Le Havre</li><li>Nimègue</li><li>Paris</li><li>Zurich</li></settlement><orgName><li>Université de Zurich</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Hadj Rabia, Smail" sort="Hadj Rabia, Smail" uniqKey="Hadj Rabia S" first="Smail" last="Hadj-Rabia">Smail Hadj-Rabia</name></noRegion><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><name sortKey="Bourrat, Emmanuelle" sort="Bourrat, Emmanuelle" uniqKey="Bourrat E" first="Emmanuelle" last="Bourrat">Emmanuelle Bourrat</name><name sortKey="Layet, Valerie" sort="Layet, Valerie" uniqKey="Layet V" first="Valerie" last="Layet">Valerie Layet</name></country><country name="Belgique"><noRegion><name sortKey="Callewaert, Bert L" sort="Callewaert, Bert L" uniqKey="Callewaert B" first="Bert L" last="Callewaert">Bert L. Callewaert</name></noRegion><name sortKey="Backer, Julie De" sort="Backer, Julie De" uniqKey="Backer J" first="Julie De" last="Backer">Julie De Backer</name><name sortKey="Coucke, Paul J" sort="Coucke, Paul J" uniqKey="Coucke P" first="Paul J" last="Coucke">Paul J. Coucke</name><name sortKey="De Paepe, Anne M" sort="De Paepe, Anne M" uniqKey="De Paepe A" first="Anne M" last="De Paepe">Anne M. De Paepe</name><name sortKey="Malfait, Fransiska" sort="Malfait, Fransiska" uniqKey="Malfait F" first="Fransiska" last="Malfait">Fransiska Malfait</name><name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name><name sortKey="Vanakker, Olivier M" sort="Vanakker, Olivier M" uniqKey="Vanakker O" first="Olivier M" last="Vanakker">Olivier M. Vanakker</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Kempers, Marlies" sort="Kempers, Marlies" uniqKey="Kempers M" first="Marlies" last="Kempers">Marlies Kempers</name></region><name sortKey="Plomp, Astrid S" sort="Plomp, Astrid S" uniqKey="Plomp A" first="Astrid S" last="Plomp">Astrid S. Plomp</name></country><country name="Suisse"><region name="Canton de Zurich"><name sortKey="Bartholdi, Deborah" sort="Bartholdi, Deborah" uniqKey="Bartholdi D" first="Deborah" last="Bartholdi">Deborah Bartholdi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/France/explor/LeHavreV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000452 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000452 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/France
|area= LeHavreV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:3599008
|texte= Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23442826" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a LeHavreV1
| This area was generated with Dilib version V0.6.25. |  |