Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Identifieur interne : 001085 ( Main/Exploration ); précédent : 001084; suivant : 001086Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.
Auteurs : Julie Soblet [Belgique] ; Jaakko Kangas [Finlande] ; Marjut N Tynki [Finlande] ; Antonella Mendola [Belgique] ; Raphaël Helaers [Belgique] ; Melanie Uebelhoer [Belgique] ; Mika Kaakinen [Finlande] ; Maria Cordisco [Argentine] ; Anne Dompmartin [France] ; Odile Enjolras [France] ; Simon Holden [Royaume-Uni] ; Alan D. Irvine [Irlande (pays)] ; Loshan Kangesu [Royaume-Uni] ; Christine Léauté-Labrèze [France] ; Agustina Lanoel [Argentine] ; Zerina Lokmic [Australie] ; Saskia Maas [Pays-Bas] ; Maeve A. Mcaleer [Irlande (pays)] ; Anthony Penington [Australie] ; Paul Rieu [Pays-Bas] ; Samira Syed [Royaume-Uni] ; Carine Van Der Vleuten [Pays-Bas] ; Rosemarie Watson [Irlande (pays)] ; Steven J. Fishman [États-Unis] ; John B. Mulliken [États-Unis] ; Lauri Eklund [Finlande] ; Nisha Limaye [Belgique] ; Laurence M. Boon [Belgique] ; Miikka Vikkula [Belgique]Source :
- The Journal of investigative dermatology [ 1523-1747 ] ; 2017.
Descripteurs français
- KwdFr :
- Anomalies vasculaires (diagnostic), Anomalies vasculaires (génétique), Belgique, Femelle, Humains, Incidence, Maladies rares, Mutation, Mâle, Naevus bleu (diagnostic), Naevus bleu (génétique), Prédisposition génétique à une maladie (épidémiologie), Récepteur TIE-2 (génétique), Tumeurs cutanées (diagnostic), Tumeurs cutanées (génétique), Tumeurs gastro-intestinales (diagnostic), Tumeurs gastro-intestinales (génétique), Études de cohortes.
- MESH :
- diagnostic : Anomalies vasculaires, Naevus bleu, Tumeurs cutanées, Tumeurs gastro-intestinales.
- génétique : Anomalies vasculaires, Naevus bleu, Récepteur TIE-2, Tumeurs cutanées, Tumeurs gastro-intestinales.
- épidémiologie : Prédisposition génétique à une maladie.
- Belgique, Femelle, Humains, Incidence, Maladies rares, Mutation, Mâle, Études de cohortes.
English descriptors
- KwdEn :
- Belgium, Cohort Studies, Female, Gastrointestinal Neoplasms (diagnosis), Gastrointestinal Neoplasms (genetics), Genetic Predisposition to Disease (epidemiology), Humans, Incidence, Male, Mutation, Nevus, Blue (diagnosis), Nevus, Blue (genetics), Rare Diseases, Receptor, TIE-2 (genetics), Skin Neoplasms (diagnosis), Skin Neoplasms (genetics), Vascular Malformations (diagnosis), Vascular Malformations (genetics).
- MESH :
- chemical , genetics : Receptor, TIE-2.
- diagnosis : Gastrointestinal Neoplasms, Nevus, Blue, Skin Neoplasms, Vascular Malformations.
- epidemiology : Genetic Predisposition to Disease.
- genetics : Gastrointestinal Neoplasms, Nevus, Blue, Skin Neoplasms, Vascular Malformations.
- Belgium, Cohort Studies, Female, Humans, Incidence, Male, Mutation, Rare Diseases.
Abstract
Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.
DOI: 10.1016/j.jid.2016.07.034
PubMed: 27519652
Affiliations:
- Argentine, Australie, Belgique, Finlande, France, Irlande (pays), Pays-Bas, Royaume-Uni, États-Unis
- Angleterre, Aquitaine, Basse-Normandie, Gueldre, Hollande-Septentrionale, Massachusetts, Midlands de l'Ouest, Nouvelle-Aquitaine, Région Normandie, Région de Bruxelles-Capitale, Victoria (État), Île-de-France
- Amsterdam, Birmingham, Bordeaux, Bruxelles, Caen, Louvain-la-Neuve, Melbourne, Nimègue, Paris
- Université catholique de Louvain, Université d'Amsterdam, Université de Caen Basse-Normandie, Université de Melbourne
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Le document en format XML
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uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name><affiliation wicri:level="4"><nlm:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Basse-Normandie</region><settlement type="city">Caen</settlement><settlement type="city">Caen</settlement></placeName><orgName type="university">Université de Caen Basse-Normandie</orgName></affiliation></author><author><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D" last="Irvine">Alan D. Irvine</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name><affiliation wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford</wicri:regionArea><wicri:noRegion>Chelmsford</wicri:noRegion></affiliation></author><author><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name><affiliation wicri:level="3"><nlm:affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name><affiliation wicri:level="4"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name><affiliation wicri:level="4"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name><affiliation wicri:level="3"><nlm:affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name><affiliation wicri:level="3"><nlm:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name><affiliation wicri:level="2"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name><affiliation wicri:level="2"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name><affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27519652</idno><idno type="pmid">27519652</idno><idno type="doi">10.1016/j.jid.2016.07.034</idno><idno type="wicri:Area/PubMed/Corpus">001380</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001380</idno><idno type="wicri:Area/PubMed/Curation">001358</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001358</idno><idno type="wicri:Area/PubMed/Checkpoint">001358</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001358</idno><idno type="wicri:Area/Ncbi/Merge">003986</idno><idno type="wicri:Area/Ncbi/Curation">003986</idno><idno type="wicri:Area/Ncbi/Checkpoint">003986</idno><idno type="wicri:Area/Main/Merge">001080</idno><idno type="wicri:Area/Main/Curation">001085</idno><idno type="wicri:Area/Main/Exploration">001085</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations.</title><author><name sortKey="Soblet, Julie" sort="Soblet, Julie" uniqKey="Soblet J" first="Julie" last="Soblet">Julie Soblet</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Kangas, Jaakko" sort="Kangas, Jaakko" uniqKey="Kangas J" first="Jaakko" last="Kangas">Jaakko Kangas</name><affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="N Tynki, Marjut" sort="N Tynki, Marjut" uniqKey="N Tynki M" first="Marjut" last="N Tynki">Marjut N Tynki</name><affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Helaers, Raphael" sort="Helaers, Raphael" uniqKey="Helaers R" first="Raphaël" last="Helaers">Raphaël Helaers</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Kaakinen, Mika" sort="Kaakinen, Mika" uniqKey="Kaakinen M" first="Mika" last="Kaakinen">Mika Kaakinen</name><affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name><affiliation wicri:level="4"><nlm:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Basse-Normandie</region><settlement type="city">Caen</settlement><settlement type="city">Caen</settlement></placeName><orgName type="university">Université de Caen Basse-Normandie</orgName></affiliation></author><author><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name><affiliation wicri:level="3"><nlm:affiliation>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Pediatric Vascular Clinic, Department of Maxillofacial and Plastic Surgery, Hôpital d'Enfants Armand Trousseau, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge</wicri:regionArea><wicri:noRegion>Cambridge</wicri:noRegion></affiliation></author><author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D" last="Irvine">Alan D. Irvine</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name><affiliation wicri:level="1"><nlm:affiliation>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital, London and St Andrews Centre for Plastic Surgery, Broomfield Hospital, Chelmsford</wicri:regionArea><wicri:noRegion>Chelmsford</wicri:noRegion></affiliation></author><author><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name><affiliation wicri:level="3"><nlm:affiliation>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Dermatology Department, Hôpital Pellegrin Enfants, Bordeaux</wicri:regionArea><placeName><region type="region">Nouvelle-Aquitaine</region><region type="old region">Aquitaine</region><settlement type="city">Bordeaux</settlement></placeName></affiliation></author><author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina.</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Department of Dermatology, Hospital Garrahan, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name><affiliation wicri:level="4"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name><affiliation wicri:level="4"><nlm:affiliation>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region><settlement type="city">Amsterdam</settlement></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name><affiliation wicri:level="4"><nlm:affiliation>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Vascular Biology, Murdoch Childrens Research Institute and Pediatrics, University of Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name><affiliation wicri:level="3"><nlm:affiliation>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Kinderchirurgie, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name><affiliation wicri:level="3"><nlm:affiliation>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Great Ormond Street Hospital for Children NHS Trust, London, Birmingham</wicri:regionArea><placeName><settlement type="city">Birmingham</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Midlands de l'Ouest</region></placeName></affiliation></author><author><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Radboud University Nijmegen Medical Centre, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name><affiliation wicri:level="1"><nlm:affiliation>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Department of Paediatric Dermatology, Our Lady's Children's Hospital, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name><affiliation wicri:level="2"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name><affiliation wicri:level="2"><nlm:affiliation>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Vascular Anomalies Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name><affiliation wicri:level="1"><nlm:affiliation>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc and Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="4"><nlm:affiliation>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: miikka.vikkula@uclouvain.be.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author></analytic><series><title level="j">The Journal of investigative dermatology</title><idno type="eISSN">1523-1747</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Belgium</term><term>Cohort Studies</term><term>Female</term><term>Gastrointestinal Neoplasms (diagnosis)</term><term>Gastrointestinal Neoplasms (genetics)</term><term>Genetic Predisposition to Disease (epidemiology)</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Mutation</term><term>Nevus, Blue (diagnosis)</term><term>Nevus, Blue (genetics)</term><term>Rare Diseases</term><term>Receptor, TIE-2 (genetics)</term><term>Skin Neoplasms (diagnosis)</term><term>Skin Neoplasms (genetics)</term><term>Vascular Malformations (diagnosis)</term><term>Vascular Malformations (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Anomalies vasculaires (diagnostic)</term><term>Anomalies vasculaires (génétique)</term><term>Belgique</term><term>Femelle</term><term>Humains</term><term>Incidence</term><term>Maladies rares</term><term>Mutation</term><term>Mâle</term><term>Naevus bleu (diagnostic)</term><term>Naevus bleu (génétique)</term><term>Prédisposition génétique à une maladie (épidémiologie)</term><term>Récepteur TIE-2 (génétique)</term><term>Tumeurs cutanées (diagnostic)</term><term>Tumeurs cutanées (génétique)</term><term>Tumeurs gastro-intestinales (diagnostic)</term><term>Tumeurs gastro-intestinales (génétique)</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor, TIE-2</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Gastrointestinal Neoplasms</term><term>Nevus, Blue</term><term>Skin Neoplasms</term><term>Vascular Malformations</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Anomalies vasculaires</term><term>Naevus bleu</term><term>Tumeurs cutanées</term><term>Tumeurs gastro-intestinales</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Genetic Predisposition to Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gastrointestinal Neoplasms</term><term>Nevus, Blue</term><term>Skin Neoplasms</term><term>Vascular Malformations</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Anomalies vasculaires</term><term>Naevus bleu</term><term>Récepteur TIE-2</term><term>Tumeurs cutanées</term><term>Tumeurs gastro-intestinales</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Prédisposition génétique à une maladie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Belgium</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Incidence</term><term>Male</term><term>Mutation</term><term>Rare Diseases</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Belgique</term><term>Femelle</term><term>Humains</term><term>Incidence</term><term>Maladies rares</term><term>Mutation</term><term>Mâle</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Blue rubber bleb nevus syndrome (Bean syndrome) is a rare, severe disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations; gastrointestinal lesions are pathognomonic. We discovered somatic mutations in TEK, the gene encoding TIE2, in 15 of 17 individuals with blue rubber bleb nevus syndrome. Somatic mutations were also identified in five of six individuals with sporadically occurring multifocal venous malformations. In contrast to common unifocal venous malformation, which is most often caused by the somatic L914F TIE2 mutation, multifocal forms are predominantly caused by double (cis) mutations, that is, two somatic mutations on the same allele of the gene. Mutations are identical in all lesions from a given individual. T1105N-T1106P is recurrent in blue rubber bleb nevus, whereas Y897C-R915C is recurrent in sporadically occurring multifocal venous malformation: both cause ligand-independent activation of TIE2, and increase survival, invasion, and colony formation when expressed in human umbilical vein endothelial cells.</div></front></TEI><affiliations><list><country><li>Argentine</li><li>Australie</li><li>Belgique</li><li>Finlande</li><li>France</li><li>Irlande (pays)</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Aquitaine</li><li>Basse-Normandie</li><li>Gueldre</li><li>Hollande-Septentrionale</li><li>Massachusetts</li><li>Midlands de l'Ouest</li><li>Nouvelle-Aquitaine</li><li>Région Normandie</li><li>Région de Bruxelles-Capitale</li><li>Victoria (État)</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Birmingham</li><li>Bordeaux</li><li>Bruxelles</li><li>Caen</li><li>Louvain-la-Neuve</li><li>Melbourne</li><li>Nimègue</li><li>Paris</li></settlement><orgName><li>Université catholique de Louvain</li><li>Université d'Amsterdam</li><li>Université de Caen Basse-Normandie</li><li>Université de Melbourne</li></orgName></list><tree><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Soblet, Julie" sort="Soblet, Julie" uniqKey="Soblet J" first="Julie" last="Soblet">Julie Soblet</name></region><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M" last="Boon">Laurence M. Boon</name><name sortKey="Helaers, Raphael" sort="Helaers, Raphael" uniqKey="Helaers R" first="Raphaël" last="Helaers">Raphaël Helaers</name><name sortKey="Limaye, Nisha" sort="Limaye, Nisha" uniqKey="Limaye N" first="Nisha" last="Limaye">Nisha Limaye</name><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country><country name="Finlande"><noRegion><name sortKey="Kangas, Jaakko" sort="Kangas, Jaakko" uniqKey="Kangas J" first="Jaakko" last="Kangas">Jaakko Kangas</name></noRegion><name sortKey="Eklund, Lauri" sort="Eklund, Lauri" uniqKey="Eklund L" first="Lauri" last="Eklund">Lauri Eklund</name><name sortKey="Kaakinen, Mika" sort="Kaakinen, Mika" uniqKey="Kaakinen M" first="Mika" last="Kaakinen">Mika Kaakinen</name><name sortKey="N Tynki, Marjut" sort="N Tynki, Marjut" uniqKey="N Tynki M" first="Marjut" last="N Tynki">Marjut N Tynki</name></country><country name="Argentine"><noRegion><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name></noRegion><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name></country><country name="France"><region name="Région Normandie"><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name></region><name sortKey="Enjolras, Odile" sort="Enjolras, Odile" uniqKey="Enjolras O" first="Odile" last="Enjolras">Odile Enjolras</name><name sortKey="Leaute Labreze, Christine" sort="Leaute Labreze, Christine" uniqKey="Leaute Labreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Holden, Simon" sort="Holden, Simon" uniqKey="Holden S" first="Simon" last="Holden">Simon Holden</name></noRegion><name sortKey="Kangesu, Loshan" sort="Kangesu, Loshan" uniqKey="Kangesu L" first="Loshan" last="Kangesu">Loshan Kangesu</name><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D" last="Irvine">Alan D. Irvine</name></noRegion><name sortKey="Mcaleer, Maeve A" sort="Mcaleer, Maeve A" uniqKey="Mcaleer M" first="Maeve A" last="Mcaleer">Maeve A. Mcaleer</name><name sortKey="Watson, Rosemarie" sort="Watson, Rosemarie" uniqKey="Watson R" first="Rosemarie" last="Watson">Rosemarie Watson</name></country><country name="Australie"><region name="Victoria (État)"><name sortKey="Lokmic, Zerina" sort="Lokmic, Zerina" uniqKey="Lokmic Z" first="Zerina" last="Lokmic">Zerina Lokmic</name></region><name sortKey="Penington, Anthony" sort="Penington, Anthony" uniqKey="Penington A" first="Anthony" last="Penington">Anthony Penington</name></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Maas, Saskia" sort="Maas, Saskia" uniqKey="Maas S" first="Saskia" last="Maas">Saskia Maas</name></region><name sortKey="Rieu, Paul" sort="Rieu, Paul" uniqKey="Rieu P" first="Paul" last="Rieu">Paul Rieu</name><name sortKey="Van Der Vleuten, Carine" sort="Van Der Vleuten, Carine" uniqKey="Van Der Vleuten C" first="Carine" last="Van Der Vleuten">Carine Van Der Vleuten</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Fishman, Steven J" sort="Fishman, Steven J" uniqKey="Fishman S" first="Steven J" last="Fishman">Steven J. Fishman</name></region><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B" last="Mulliken">John B. Mulliken</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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