Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
Identifieur interne : 00A631 ( Main/Exploration ); précédent : 00A630; suivant : 00A632Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
Auteurs : V. L. Sheen [États-Unis] ; A. Jansen [Canada] ; M. H. Chen [États-Unis] ; E. Parrini [Italie] ; T. Morgan [Nouvelle-Zélande] ; R. Ravenscroft [États-Unis] ; V. Ganesh [États-Unis] ; T. Underwood [Australie] ; J. Wiley [Australie] ; R. Leventer [Australie] ; R. R. Vaid [États-Unis] ; D. E. Ruiz [États-Unis] ; G. M. Hutchins [États-Unis] ; J. Menasha [États-Unis] ; J. Willner [États-Unis] ; Y. Geng [États-Unis] ; K. W. Gripp [États-Unis] ; L. Nicholson [États-Unis] ; E. Berry-Kravis [États-Unis] ; A. Bodell [États-Unis] ; K. Apse [États-Unis] ; R. S. Hill [États-Unis] ; F. Dubeau [Canada] ; F. Andermann [Canada] ; J. Barkovich [États-Unis] ; E. Andermann [Canada] ; Y. Y. Shugart [États-Unis] ; P. Thomas [France] ; M. Viri [Italie] ; P. Veggiotti [Italie] ; S. Robertson [Nouvelle-Zélande] ; R. Guerrini [Italie] ; C. A. Walsh [États-Unis]Source :
- Neurology [ 0028-3878 ] ; 2005.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Objective: To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). Methods: Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated for loss of filamin A (FLNA) protein and Southern blotting assessed for any potential chromosome rearrangement in this region. Results: The authors report two familial cases and nine additional sporadic cases of the EDS-variant form of PH, which is characterized by nodular brain heterotopia, joint hypermobility, and development of aortic dilatation in early adulthood. MRI typically demonstrated bilateral nodular PH, indistinguishable from PH due to FLNA mutations. Exonic sequencing or SSCP analyses of FLNA revealed a 2762 delG single base pair deletion in one affected female. Another affected female harbored a C116 single point mutation, resulting in an A39G change. A third affected female had a 4147 delG single base pair deletion. One pedigree with no detectable exonic mutation demonstrated positive linkage to the FLNA locus Xq28, an affected individual in this family also had no detectable FLNA protein, but no chromosomal rearrangement was detected. Conclusion: These results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.
Affiliations:
- Australie, Canada, France, Italie, Nouvelle-Zélande, États-Unis
- Lombardie, Massachusetts, Nouvelle-Galles du Sud, Provence-Alpes-Côte d'Azur, Québec, Toscane, Victoria (État)
- Boston, Melbourne, Milan, Montréal, Nice, Pise, Sydney
- Université McGill, Université de Melbourne
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Le document en format XML
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Chen</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Brigham and Women's Hospital, Cardiovascular Division</s1><s2>Boston</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Parrini, E" sort="Parrini, E" uniqKey="Parrini E" first="E." last="Parrini">E. Parrini</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Epilepsy, Neurophysiology & Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa & IRCCS Fondazione Stella Maris</s1><s2>Pisa</s2><s3>ITA</s3><sZ>4 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Morgan, T" sort="Morgan, T" uniqKey="Morgan T" first="T." last="Morgan">T. Morgan</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Paediatrics and Child Health, University of Otago</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>5 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Ravenscroft, R" sort="Ravenscroft, R" uniqKey="Ravenscroft R" first="R." last="Ravenscroft">R. Ravenscroft</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ganesh, V" sort="Ganesh, V" uniqKey="Ganesh V" first="V." last="Ganesh">V. Ganesh</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Underwood, T" sort="Underwood, T" uniqKey="Underwood T" first="T." last="Underwood">T. Underwood</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Departments of Hematology and Respiratory Medicine, Nepean Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Wiley, J" sort="Wiley, J" uniqKey="Wiley J" first="J." last="Wiley">J. Wiley</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Departments of Hematology and Respiratory Medicine, Nepean Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Leventer, R" sort="Leventer, R" uniqKey="Leventer R" first="R." last="Leventer">R. Leventer</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Neurology, Royal Children's Hospital, & Murdoch Children's Research Institute, University of Melbourne</s1><s2>Victoria</s2><s3>AUS</s3><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Vaid, R R" sort="Vaid, R R" uniqKey="Vaid R" first="R. R." last="Vaid">R. R. Vaid</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Radiology, University of California at San Francisco</s1><s3>USA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Radiology, University of California at San Francisco</wicri:noRegion></affiliation></author><author><name sortKey="Ruiz, D E" sort="Ruiz, D E" uniqKey="Ruiz D" first="D. E." last="Ruiz">D. E. Ruiz</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Radiology, University of California at San Francisco</s1><s3>USA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Radiology, University of California at San Francisco</wicri:noRegion></affiliation></author><author><name sortKey="Hutchins, G M" sort="Hutchins, G M" uniqKey="Hutchins G" first="G. M." last="Hutchins">G. M. Hutchins</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Pathology, The Johns Hopkins Hospital</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Baltimore, MD</wicri:noRegion></affiliation></author><author><name sortKey="Menasha, J" sort="Menasha, J" uniqKey="Menasha J" first="J." last="Menasha">J. Menasha</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Human Genetics, Mount Sinai Hospital</s1><s2>New York, NY</s2><s3>USA</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY</wicri:noRegion></affiliation></author><author><name sortKey="Willner, J" sort="Willner, J" uniqKey="Willner J" first="J." last="Willner">J. Willner</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Human Genetics, Mount Sinai Hospital</s1><s2>New York, NY</s2><s3>USA</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY</wicri:noRegion></affiliation></author><author><name sortKey="Geng, Y" sort="Geng, Y" uniqKey="Geng Y" first="Y." last="Geng">Y. Geng</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Human Genetics, Mount Sinai Hospital</s1><s2>New York, NY</s2><s3>USA</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY</wicri:noRegion></affiliation></author><author><name sortKey="Gripp, K W" sort="Gripp, K W" uniqKey="Gripp K" first="K. W." last="Gripp">K. W. Gripp</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Division of Medical Genetics, duPont Hospital for Children</s1><s2>Wilmington, DE</s2><s3>USA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Wilmington, DE</wicri:noRegion></affiliation></author><author><name sortKey="Nicholson, L" sort="Nicholson, L" uniqKey="Nicholson L" first="L." last="Nicholson">L. Nicholson</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Division of Medical Genetics, duPont Hospital for Children</s1><s2>Wilmington, DE</s2><s3>USA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Wilmington, DE</wicri:noRegion></affiliation></author><author><name sortKey="Berry Kravis, E" sort="Berry Kravis, E" uniqKey="Berry Kravis E" first="E." last="Berry-Kravis">E. Berry-Kravis</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Pediatrics, Section of Neurology, Rush University Medical Center</s1><s2>Chicago, IL</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Chicago, IL</wicri:noRegion></affiliation></author><author><name sortKey="Bodell, A" sort="Bodell, A" uniqKey="Bodell A" first="A." last="Bodell">A. Bodell</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Apse, K" sort="Apse, K" uniqKey="Apse K" first="K." last="Apse">K. Apse</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Hill, R S" sort="Hill, R S" uniqKey="Hill R" first="R. S." last="Hill">R. S. Hill</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Dubeau, F" sort="Dubeau, F" uniqKey="Dubeau F" first="F." last="Dubeau">F. Dubeau</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Montreal Neurological Institute and Hospital, and the Department of Neurology and Neurosurgery, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Andermann, F" sort="Andermann, F" uniqKey="Andermann F" first="F." last="Andermann">F. Andermann</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Montreal Neurological Institute and Hospital, and the Department of Neurology and Neurosurgery, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Barkovich, J" sort="Barkovich, J" uniqKey="Barkovich J" first="J." last="Barkovich">J. Barkovich</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Radiology, University of California at San Francisco</s1><s3>USA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Radiology, University of California at San Francisco</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, E" sort="Andermann, E" uniqKey="Andermann E" first="E." last="Andermann">E. Andermann</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Department of Human Genetics, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>26 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Shugart, Y Y" sort="Shugart, Y Y" uniqKey="Shugart Y" first="Y. Y." last="Shugart">Y. Y. Shugart</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>27 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Baltimore, MD</wicri:noRegion></affiliation></author><author><name sortKey="Thomas, P" sort="Thomas, P" uniqKey="Thomas P" first="P." last="Thomas">P. Thomas</name><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Service de Neurologie, Hopital Pasteur</s1><s2>Nice</s2><s3>FRA</s3><sZ>28 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Viri, M" sort="Viri, M" uniqKey="Viri M" first="M." last="Viri">M. Viri</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Ospedale Fatebenefratelli</s1><s2>Milan</s2><s3>ITA</s3><sZ>29 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Veggiotti, P" sort="Veggiotti, P" uniqKey="Veggiotti P" first="P." last="Veggiotti">P. Veggiotti</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Neuropsichiatria Infantile. Istituto Mondino Pavia</s1><s3>ITA</s3><sZ>30 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Neuropsichiatria Infantile. Istituto Mondino Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Robertson, S" sort="Robertson, S" uniqKey="Robertson S" first="S." last="Robertson">S. Robertson</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Paediatrics and Child Health, University of Otago</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>5 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Guerrini, R" sort="Guerrini, R" uniqKey="Guerrini R" first="R." last="Guerrini">R. Guerrini</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Epilepsy, Neurophysiology & Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa & IRCCS Fondazione Stella Maris</s1><s2>Pisa</s2><s3>ITA</s3><sZ>4 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Walsh, C A" sort="Walsh, C A" uniqKey="Walsh C" first="C. A." last="Walsh">C. A. Walsh</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Program in Biological and Biomedical Sciences, Harvard Medical School</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Boston, MA</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">05-0185608</idno><date when="2005">2005</date><idno type="stanalyst">PASCAL 05-0185608 INIST</idno><idno type="RBID">Pascal:05-0185608</idno><idno type="wicri:Area/PascalFrancis/Corpus">004A07</idno><idno type="wicri:Area/PascalFrancis/Curation">001696</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">004603</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004603</idno><idno type="wicri:doubleKey">0028-3878:2005:Sheen V:filamin:a:mutations</idno><idno type="wicri:Area/Main/Merge">00B253</idno><idno type="wicri:Area/Main/Curation">00A631</idno><idno type="wicri:Area/Main/Exploration">00A631</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome</title><author><name sortKey="Sheen, V L" sort="Sheen, V L" uniqKey="Sheen V" first="V. L." last="Sheen">V. L. Sheen</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Jansen, A" sort="Jansen, A" uniqKey="Jansen A" first="A." last="Jansen">A. Jansen</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Montreal Neurological Institute and Hospital, and the Department of Neurology and Neurosurgery, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Chen, M H" sort="Chen, M H" uniqKey="Chen M" first="M. H." last="Chen">M. H. Chen</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Brigham and Women's Hospital, Cardiovascular Division</s1><s2>Boston</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Parrini, E" sort="Parrini, E" uniqKey="Parrini E" first="E." last="Parrini">E. Parrini</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Epilepsy, Neurophysiology & Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa & IRCCS Fondazione Stella Maris</s1><s2>Pisa</s2><s3>ITA</s3><sZ>4 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Morgan, T" sort="Morgan, T" uniqKey="Morgan T" first="T." last="Morgan">T. Morgan</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Paediatrics and Child Health, University of Otago</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>5 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Ravenscroft, R" sort="Ravenscroft, R" uniqKey="Ravenscroft R" first="R." last="Ravenscroft">R. Ravenscroft</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ganesh, V" sort="Ganesh, V" uniqKey="Ganesh V" first="V." last="Ganesh">V. Ganesh</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Underwood, T" sort="Underwood, T" uniqKey="Underwood T" first="T." last="Underwood">T. Underwood</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Departments of Hematology and Respiratory Medicine, Nepean Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Wiley, J" sort="Wiley, J" uniqKey="Wiley J" first="J." last="Wiley">J. Wiley</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Departments of Hematology and Respiratory Medicine, Nepean Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Leventer, R" sort="Leventer, R" uniqKey="Leventer R" first="R." last="Leventer">R. Leventer</name><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Department of Neurology, Royal Children's Hospital, & Murdoch Children's Research Institute, University of Melbourne</s1><s2>Victoria</s2><s3>AUS</s3><sZ>10 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName><orgName type="university">Université de Melbourne</orgName></affiliation></author><author><name sortKey="Vaid, R R" sort="Vaid, R R" uniqKey="Vaid R" first="R. R." last="Vaid">R. R. Vaid</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Radiology, University of California at San Francisco</s1><s3>USA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Radiology, University of California at San Francisco</wicri:noRegion></affiliation></author><author><name sortKey="Ruiz, D E" sort="Ruiz, D E" uniqKey="Ruiz D" first="D. E." last="Ruiz">D. E. Ruiz</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Radiology, University of California at San Francisco</s1><s3>USA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Radiology, University of California at San Francisco</wicri:noRegion></affiliation></author><author><name sortKey="Hutchins, G M" sort="Hutchins, G M" uniqKey="Hutchins G" first="G. M." last="Hutchins">G. M. Hutchins</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Department of Pathology, The Johns Hopkins Hospital</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>13 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Baltimore, MD</wicri:noRegion></affiliation></author><author><name sortKey="Menasha, J" sort="Menasha, J" uniqKey="Menasha J" first="J." last="Menasha">J. Menasha</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Human Genetics, Mount Sinai Hospital</s1><s2>New York, NY</s2><s3>USA</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY</wicri:noRegion></affiliation></author><author><name sortKey="Willner, J" sort="Willner, J" uniqKey="Willner J" first="J." last="Willner">J. Willner</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Human Genetics, Mount Sinai Hospital</s1><s2>New York, NY</s2><s3>USA</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY</wicri:noRegion></affiliation></author><author><name sortKey="Geng, Y" sort="Geng, Y" uniqKey="Geng Y" first="Y." last="Geng">Y. Geng</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Human Genetics, Mount Sinai Hospital</s1><s2>New York, NY</s2><s3>USA</s3><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY</wicri:noRegion></affiliation></author><author><name sortKey="Gripp, K W" sort="Gripp, K W" uniqKey="Gripp K" first="K. W." last="Gripp">K. W. Gripp</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Division of Medical Genetics, duPont Hospital for Children</s1><s2>Wilmington, DE</s2><s3>USA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Wilmington, DE</wicri:noRegion></affiliation></author><author><name sortKey="Nicholson, L" sort="Nicholson, L" uniqKey="Nicholson L" first="L." last="Nicholson">L. Nicholson</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Division of Medical Genetics, duPont Hospital for Children</s1><s2>Wilmington, DE</s2><s3>USA</s3><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Wilmington, DE</wicri:noRegion></affiliation></author><author><name sortKey="Berry Kravis, E" sort="Berry Kravis, E" uniqKey="Berry Kravis E" first="E." last="Berry-Kravis">E. Berry-Kravis</name><affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Department of Pediatrics, Section of Neurology, Rush University Medical Center</s1><s2>Chicago, IL</s2><s3>USA</s3><sZ>19 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Chicago, IL</wicri:noRegion></affiliation></author><author><name sortKey="Bodell, A" sort="Bodell, A" uniqKey="Bodell A" first="A." last="Bodell">A. Bodell</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Apse, K" sort="Apse, K" uniqKey="Apse K" first="K." last="Apse">K. Apse</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Hill, R S" sort="Hill, R S" uniqKey="Hill R" first="R. S." last="Hill">R. S. Hill</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Dubeau, F" sort="Dubeau, F" uniqKey="Dubeau F" first="F." last="Dubeau">F. Dubeau</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Montreal Neurological Institute and Hospital, and the Department of Neurology and Neurosurgery, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Andermann, F" sort="Andermann, F" uniqKey="Andermann F" first="F." last="Andermann">F. Andermann</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Montreal Neurological Institute and Hospital, and the Department of Neurology and Neurosurgery, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>2 aut.</sZ><sZ>23 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Barkovich, J" sort="Barkovich, J" uniqKey="Barkovich J" first="J." last="Barkovich">J. Barkovich</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Department of Radiology, University of California at San Francisco</s1><s3>USA</s3><sZ>11 aut.</sZ><sZ>12 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Department of Radiology, University of California at San Francisco</wicri:noRegion></affiliation></author><author><name sortKey="Andermann, E" sort="Andermann, E" uniqKey="Andermann E" first="E." last="Andermann">E. Andermann</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Department of Human Genetics, McGill University</s1><s2>Montreal, Quebec</s2><s3>CAN</s3><sZ>26 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Shugart, Y Y" sort="Shugart, Y Y" uniqKey="Shugart Y" first="Y. Y." last="Shugart">Y. Y. Shugart</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health</s1><s2>Baltimore, MD</s2><s3>USA</s3><sZ>27 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Baltimore, MD</wicri:noRegion></affiliation></author><author><name sortKey="Thomas, P" sort="Thomas, P" uniqKey="Thomas P" first="P." last="Thomas">P. Thomas</name><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Service de Neurologie, Hopital Pasteur</s1><s2>Nice</s2><s3>FRA</s3><sZ>28 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Viri, M" sort="Viri, M" uniqKey="Viri M" first="M." last="Viri">M. Viri</name><affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Ospedale Fatebenefratelli</s1><s2>Milan</s2><s3>ITA</s3><sZ>29 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Veggiotti, P" sort="Veggiotti, P" uniqKey="Veggiotti P" first="P." last="Veggiotti">P. Veggiotti</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Neuropsichiatria Infantile. Istituto Mondino Pavia</s1><s3>ITA</s3><sZ>30 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Neuropsichiatria Infantile. Istituto Mondino Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Robertson, S" sort="Robertson, S" uniqKey="Robertson S" first="S." last="Robertson">S. Robertson</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Paediatrics and Child Health, University of Otago</s1><s2>Dunedin</s2><s3>NZL</s3><sZ>5 aut.</sZ><sZ>31 aut.</sZ></inist:fA14><country>Nouvelle-Zélande</country><wicri:noRegion>Dunedin</wicri:noRegion></affiliation></author><author><name sortKey="Guerrini, R" sort="Guerrini, R" uniqKey="Guerrini R" first="R." last="Guerrini">R. Guerrini</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Epilepsy, Neurophysiology & Neurogenetics Unit, Division of Child Neurology and Psychiatry, University of Pisa & IRCCS Fondazione Stella Maris</s1><s2>Pisa</s2><s3>ITA</s3><sZ>4 aut.</sZ><sZ>32 aut.</sZ></inist:fA14><country>Italie</country><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Walsh, C A" sort="Walsh, C A" uniqKey="Walsh C" first="C. A." last="Walsh">C. A. Walsh</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center</s1><s2>Boston</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>20 aut.</sZ><sZ>21 aut.</sZ><sZ>22 aut.</sZ><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Program in Biological and Biomedical Sciences, Harvard Medical School</s1><s2>Boston, MA</s2><s3>USA</s3><sZ>33 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Boston, MA</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno><imprint><date when="2005">2005</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Neurology</title><title level="j" type="abbreviated">Neurology</title><idno type="ISSN">0028-3878</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Ehlers Danlos syndrome</term><term>Mutation</term><term>Nervous system diseases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Mutation</term><term>Ehlers Danlos syndrome</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS). Methods: Exonic sequencing and single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage analysis using microsatellite markers on the X-chromosome was performed on a single pedigree. Western blotting evaluated for loss of filamin A (FLNA) protein and Southern blotting assessed for any potential chromosome rearrangement in this region. Results: The authors report two familial cases and nine additional sporadic cases of the EDS-variant form of PH, which is characterized by nodular brain heterotopia, joint hypermobility, and development of aortic dilatation in early adulthood. MRI typically demonstrated bilateral nodular PH, indistinguishable from PH due to FLNA mutations. Exonic sequencing or SSCP analyses of FLNA revealed a 2762 delG single base pair deletion in one affected female. Another affected female harbored a C116 single point mutation, resulting in an A39G change. A third affected female had a 4147 delG single base pair deletion. One pedigree with no detectable exonic mutation demonstrated positive linkage to the FLNA locus Xq28, an affected individual in this family also had no detectable FLNA protein, but no chromosomal rearrangement was detected. Conclusion: These results suggest that the Ehlers-Danlos variant of periventricular heterotopia (PH), in part, represents an overlapping syndrome with X-linked dominant PH due to filamin A mutations.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Italie</li><li>Nouvelle-Zélande</li><li>États-Unis</li></country><region><li>Lombardie</li><li>Massachusetts</li><li>Nouvelle-Galles du Sud</li><li>Provence-Alpes-Côte d'Azur</li><li>Québec</li><li>Toscane</li><li>Victoria (État)</li></region><settlement><li>Boston</li><li>Melbourne</li><li>Milan</li><li>Montréal</li><li>Nice</li><li>Pise</li><li>Sydney</li></settlement><orgName><li>Université McGill</li><li>Université de Melbourne</li></orgName></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Sheen, V L" sort="Sheen, V L" uniqKey="Sheen V" first="V. L." last="Sheen">V. L. Sheen</name></region><name sortKey="Apse, K" sort="Apse, K" uniqKey="Apse K" first="K." last="Apse">K. Apse</name><name sortKey="Barkovich, J" sort="Barkovich, J" uniqKey="Barkovich J" first="J." last="Barkovich">J. Barkovich</name><name sortKey="Berry Kravis, E" sort="Berry Kravis, E" uniqKey="Berry Kravis E" first="E." last="Berry-Kravis">E. Berry-Kravis</name><name sortKey="Bodell, A" sort="Bodell, A" uniqKey="Bodell A" first="A." last="Bodell">A. Bodell</name><name sortKey="Chen, M H" sort="Chen, M H" uniqKey="Chen M" first="M. H." last="Chen">M. H. Chen</name><name sortKey="Ganesh, V" sort="Ganesh, V" uniqKey="Ganesh V" first="V." last="Ganesh">V. Ganesh</name><name sortKey="Geng, Y" sort="Geng, Y" uniqKey="Geng Y" first="Y." last="Geng">Y. Geng</name><name sortKey="Gripp, K W" sort="Gripp, K W" uniqKey="Gripp K" first="K. W." last="Gripp">K. W. Gripp</name><name sortKey="Hill, R S" sort="Hill, R S" uniqKey="Hill R" first="R. S." last="Hill">R. S. Hill</name><name sortKey="Hutchins, G M" sort="Hutchins, G M" uniqKey="Hutchins G" first="G. M." last="Hutchins">G. M. Hutchins</name><name sortKey="Menasha, J" sort="Menasha, J" uniqKey="Menasha J" first="J." last="Menasha">J. Menasha</name><name sortKey="Nicholson, L" sort="Nicholson, L" uniqKey="Nicholson L" first="L." last="Nicholson">L. Nicholson</name><name sortKey="Ravenscroft, R" sort="Ravenscroft, R" uniqKey="Ravenscroft R" first="R." last="Ravenscroft">R. Ravenscroft</name><name sortKey="Ruiz, D E" sort="Ruiz, D E" uniqKey="Ruiz D" first="D. E." last="Ruiz">D. E. Ruiz</name><name sortKey="Shugart, Y Y" sort="Shugart, Y Y" uniqKey="Shugart Y" first="Y. Y." last="Shugart">Y. Y. Shugart</name><name sortKey="Vaid, R R" sort="Vaid, R R" uniqKey="Vaid R" first="R. R." last="Vaid">R. R. Vaid</name><name sortKey="Walsh, C A" sort="Walsh, C A" uniqKey="Walsh C" first="C. A." last="Walsh">C. A. Walsh</name><name sortKey="Walsh, C A" sort="Walsh, C A" uniqKey="Walsh C" first="C. A." last="Walsh">C. A. Walsh</name><name sortKey="Willner, J" sort="Willner, J" uniqKey="Willner J" first="J." last="Willner">J. Willner</name></country><country name="Canada"><region name="Québec"><name sortKey="Jansen, A" sort="Jansen, A" uniqKey="Jansen A" first="A." last="Jansen">A. Jansen</name></region><name sortKey="Andermann, E" sort="Andermann, E" uniqKey="Andermann E" first="E." last="Andermann">E. Andermann</name><name sortKey="Andermann, F" sort="Andermann, F" uniqKey="Andermann F" first="F." last="Andermann">F. Andermann</name><name sortKey="Dubeau, F" sort="Dubeau, F" uniqKey="Dubeau F" first="F." last="Dubeau">F. Dubeau</name></country><country name="Italie"><region name="Toscane"><name sortKey="Parrini, E" sort="Parrini, E" uniqKey="Parrini E" first="E." last="Parrini">E. Parrini</name></region><name sortKey="Guerrini, R" sort="Guerrini, R" uniqKey="Guerrini R" first="R." last="Guerrini">R. Guerrini</name><name sortKey="Veggiotti, P" sort="Veggiotti, P" uniqKey="Veggiotti P" first="P." last="Veggiotti">P. Veggiotti</name><name sortKey="Viri, M" sort="Viri, M" uniqKey="Viri M" first="M." last="Viri">M. Viri</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Morgan, T" sort="Morgan, T" uniqKey="Morgan T" first="T." last="Morgan">T. Morgan</name></noRegion><name sortKey="Robertson, S" sort="Robertson, S" uniqKey="Robertson S" first="S." last="Robertson">S. Robertson</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Underwood, T" sort="Underwood, T" uniqKey="Underwood T" first="T." last="Underwood">T. Underwood</name></region><name sortKey="Leventer, R" sort="Leventer, R" uniqKey="Leventer R" first="R." last="Leventer">R. Leventer</name><name sortKey="Wiley, J" sort="Wiley, J" uniqKey="Wiley J" first="J." last="Wiley">J. Wiley</name></country><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Thomas, P" sort="Thomas, P" uniqKey="Thomas P" first="P." last="Thomas">P. Thomas</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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