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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">In-Frame Mutations in Exon 1 of <italic>SKI</italic> Cause Dominant Shprintzen-Goldberg Syndrome</title><author><name sortKey="Carmignac, Virginie" sort="Carmignac, Virginie" uniqKey="Carmignac V" first="Virginie" last="Carmignac">Virginie Carmignac</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Adès">Lesley Adès</name><affiliation><nlm:aff id="aff3">Marfan Research Group, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Discipline of Paediatrics and Child Health, University of Sydney, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Callewaert, Bert" sort="Callewaert, Bert" uniqKey="Callewaert B" first="Bert" last="Callewaert">Bert Callewaert</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name><affiliation><nlm:aff id="aff7">Service de Génétique, Centre Hospitalier Universitaire Purpan, F-31000 Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Gueneau, Lucie" sort="Gueneau, Lucie" uniqKey="Gueneau L" first="Lucie" last="Gueneau">Lucie Gueneau</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Courcet, Jean Benoit" sort="Courcet, Jean Benoit" uniqKey="Courcet J" first="Jean-Benoit" last="Courcet">Jean-Benoit Courcet</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Lopez, Estelle" sort="Lopez, Estelle" uniqKey="Lopez E" first="Estelle" last="Lopez">Estelle Lopez</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Holman, Katherine" sort="Holman, Katherine" uniqKey="Holman K" first="Katherine" last="Holman">Katherine Holman</name><affiliation><nlm:aff id="aff3">Marfan Research Group, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Discipline of Paediatrics and Child Health, University of Sydney, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name><affiliation><nlm:aff id="aff8">Département de Génétique, Université Claude Bernard Lyon 1 et Hôpital Louis Pradel, Hospices Civils de Lyon, F-69977 Bron CEDEX, France</nlm:aff></affiliation></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name><affiliation><nlm:aff id="aff9">Service de Génétique, Centre Hospitalier Universitaire, F-14033 Caen CEDEX 9, France</nlm:aff></affiliation></author><author><name sortKey="De Backer, Julie" sort="De Backer, Julie" uniqKey="De Backer J" first="Julie" last="De Backer">Julie De Backer</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Child, Anne" sort="Child, Anne" uniqKey="Child A" first="Anne" last="Child">Anne Child</name><affiliation><nlm:aff id="aff10">Department of Cardiac and Vascular Sciences, St. George’s University of London, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name><affiliation><nlm:aff id="aff10">Department of Cardiac and Vascular Sciences, St. George’s University of London, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Duplomb, Laurence" sort="Duplomb, Laurence" uniqKey="Duplomb L" first="Laurence" last="Duplomb">Laurence Duplomb</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Callier, Patrick" sort="Callier, Patrick" uniqKey="Callier P" first="Patrick" last="Callier">Patrick Callier</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Service de Cytogénétique, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Service de Dermatologie, Centre Hospitalier Universitaire Bocage, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Gigot, Nadege" sort="Gigot, Nadege" uniqKey="Gigot N" first="Nadège" last="Gigot">Nadège Gigot</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name><affiliation><nlm:aff id="aff14">Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, I-27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Grasso, Maurizia" sort="Grasso, Maurizia" uniqKey="Grasso M" first="Maurizia" last="Grasso">Maurizia Grasso</name><affiliation><nlm:aff id="aff14">Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, I-27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation><nlm:aff id="aff15">Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, D-13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="aff16">Centre de Référence pour les Anomalies du Développement, Service de Génétique, Hôpital Pellegrin, Centre Hospitalier Universitaire Bordeaux, F-33076 Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Equipe d'Accueil 4576, Laboratoire Maladies Rares: Génétique et Métabolisme, Université Bordeaux, F-33076 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation><nlm:aff id="aff18">Service de Génétique Médicale, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, F-75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:aff id="aff19">Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, I-16147 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Sanchez Del Pozo, Jaime" sort="Sanchez Del Pozo, Jaime" uniqKey="Sanchez Del Pozo J" first="Jaime" last="Sanchez Del Pozo">Jaime Sanchez Del Pozo</name><affiliation><nlm:aff id="aff20">Department of Genetics, Division of Endocrinology, 12 de Octubre Hospital, S-28041 Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name><affiliation><nlm:aff id="aff21">Institut National de la Santé et de la Recherche Médicale U698 and Centre de Référence pour les Syndromes de Marfan et Apparentés, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, F-75877 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation><nlm:aff id="aff22">Institut National de la Santé et de la Recherche Médicale UMR_S 910, Université Aix-Marseille, F-13000 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name><affiliation><nlm:aff id="aff22">Institut National de la Santé et de la Recherche Médicale UMR_S 910, Université Aix-Marseille, F-13000 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Département de Génétique Médicale, Hôpital d’Enfants de la Timone, Assistance Publique-Hopitaux de Marseille, F-13000 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:aff id="aff23">Département de Génétique Médicale, Hôpital d’Enfants de la Timone, Assistance Publique-Hopitaux de Marseille, F-13000 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff24">Institut National de la Santé et de la Recherche Médicale U781 and Département de Génétique, Fondation Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris Cité, F-75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><nlm:aff id="aff25">Laboratoire de Génétique Moléculaire, Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Université Versailles-Saint Quentin en Yvelines, F-92104 Boulogne, France</nlm:aff></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23103230</idno><idno type="pmc">3487125</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487125</idno><idno type="RBID">PMC:3487125</idno><idno type="doi">10.1016/j.ajhg.2012.10.002</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001200</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001200</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">In-Frame Mutations in Exon 1 of <italic>SKI</italic> Cause Dominant Shprintzen-Goldberg Syndrome</title><author><name sortKey="Carmignac, Virginie" sort="Carmignac, Virginie" uniqKey="Carmignac V" first="Virginie" last="Carmignac">Virginie Carmignac</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Adès">Lesley Adès</name><affiliation><nlm:aff id="aff3">Marfan Research Group, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Discipline of Paediatrics and Child Health, University of Sydney, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Callewaert, Bert" sort="Callewaert, Bert" uniqKey="Callewaert B" first="Bert" last="Callewaert">Bert Callewaert</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name><affiliation><nlm:aff id="aff7">Service de Génétique, Centre Hospitalier Universitaire Purpan, F-31000 Toulouse, France</nlm:aff></affiliation></author><author><name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Gueneau, Lucie" sort="Gueneau, Lucie" uniqKey="Gueneau L" first="Lucie" last="Gueneau">Lucie Gueneau</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Courcet, Jean Benoit" sort="Courcet, Jean Benoit" uniqKey="Courcet J" first="Jean-Benoit" last="Courcet">Jean-Benoit Courcet</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Lopez, Estelle" sort="Lopez, Estelle" uniqKey="Lopez E" first="Estelle" last="Lopez">Estelle Lopez</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Holman, Katherine" sort="Holman, Katherine" uniqKey="Holman K" first="Katherine" last="Holman">Katherine Holman</name><affiliation><nlm:aff id="aff3">Marfan Research Group, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Discipline of Paediatrics and Child Health, University of Sydney, NSW 2006 Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name><affiliation><nlm:aff id="aff8">Département de Génétique, Université Claude Bernard Lyon 1 et Hôpital Louis Pradel, Hospices Civils de Lyon, F-69977 Bron CEDEX, France</nlm:aff></affiliation></author><author><name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name><affiliation><nlm:aff id="aff9">Service de Génétique, Centre Hospitalier Universitaire, F-14033 Caen CEDEX 9, France</nlm:aff></affiliation></author><author><name sortKey="De Backer, Julie" sort="De Backer, Julie" uniqKey="De Backer J" first="Julie" last="De Backer">Julie De Backer</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Child, Anne" sort="Child, Anne" uniqKey="Child A" first="Anne" last="Child">Anne Child</name><affiliation><nlm:aff id="aff10">Department of Cardiac and Vascular Sciences, St. George’s University of London, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name><affiliation><nlm:aff id="aff10">Department of Cardiac and Vascular Sciences, St. George’s University of London, London SW17 0RE, UK</nlm:aff></affiliation></author><author><name sortKey="Duplomb, Laurence" sort="Duplomb, Laurence" uniqKey="Duplomb L" first="Laurence" last="Duplomb">Laurence Duplomb</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Callier, Patrick" sort="Callier, Patrick" uniqKey="Callier P" first="Patrick" last="Callier">Patrick Callier</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff11">Service de Cytogénétique, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff13">Service de Dermatologie, Centre Hospitalier Universitaire Bocage, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Gigot, Nadege" sort="Gigot, Nadege" uniqKey="Gigot N" first="Nadège" last="Gigot">Nadège Gigot</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name><affiliation><nlm:aff id="aff14">Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, I-27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Grasso, Maurizia" sort="Grasso, Maurizia" uniqKey="Grasso M" first="Maurizia" last="Grasso">Maurizia Grasso</name><affiliation><nlm:aff id="aff14">Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, I-27100 Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name><affiliation><nlm:aff id="aff15">Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, D-13353 Berlin, Germany</nlm:aff></affiliation></author><author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name><affiliation><nlm:aff id="aff16">Centre de Référence pour les Anomalies du Développement, Service de Génétique, Hôpital Pellegrin, Centre Hospitalier Universitaire Bordeaux, F-33076 Bordeaux, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">Equipe d'Accueil 4576, Laboratoire Maladies Rares: Génétique et Métabolisme, Université Bordeaux, F-33076 Bordeaux, France</nlm:aff></affiliation></author><author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name><affiliation><nlm:aff id="aff18">Service de Génétique Médicale, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, F-75019 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name><affiliation><nlm:aff id="aff19">Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, I-16147 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Sanchez Del Pozo, Jaime" sort="Sanchez Del Pozo, Jaime" uniqKey="Sanchez Del Pozo J" first="Jaime" last="Sanchez Del Pozo">Jaime Sanchez Del Pozo</name><affiliation><nlm:aff id="aff20">Department of Genetics, Division of Endocrinology, 12 de Octubre Hospital, S-28041 Madrid, Spain</nlm:aff></affiliation></author><author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name><affiliation><nlm:aff id="aff21">Institut National de la Santé et de la Recherche Médicale U698 and Centre de Référence pour les Syndromes de Marfan et Apparentés, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, F-75877 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</name><affiliation><nlm:aff id="aff22">Institut National de la Santé et de la Recherche Médicale UMR_S 910, Université Aix-Marseille, F-13000 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name><affiliation><nlm:aff id="aff22">Institut National de la Santé et de la Recherche Médicale UMR_S 910, Université Aix-Marseille, F-13000 Marseille, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Département de Génétique Médicale, Hôpital d’Enfants de la Timone, Assistance Publique-Hopitaux de Marseille, F-13000 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name><affiliation><nlm:aff id="aff23">Département de Génétique Médicale, Hôpital d’Enfants de la Timone, Assistance Publique-Hopitaux de Marseille, F-13000 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff24">Institut National de la Santé et de la Recherche Médicale U781 and Département de Génétique, Fondation Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris Cité, F-75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Rivière">Jean-Baptiste Rivière</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</nlm:aff></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><nlm:aff id="aff25">Laboratoire de Génétique Moléculaire, Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Université Versailles-Saint Quentin en Yvelines, F-92104 Boulogne, France</nlm:aff></affiliation></author><author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name><affiliation><nlm:aff id="aff6">Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation><nlm:aff id="aff1">Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of <italic>SKI</italic>. Direct sequencing of <italic>SKI</italic> further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of <italic>SKI</italic>. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in <italic>Ski</italic>-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-β-signaling pathway.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">23103230</article-id><article-id pub-id-type="pmc">3487125</article-id><article-id pub-id-type="publisher-id">AJHG1277</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.10.002</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>In-Frame Mutations in Exon 1 of <italic>SKI</italic> Cause Dominant Shprintzen-Goldberg Syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Carmignac</surname><given-names>Virginie</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">26</xref></contrib><contrib contrib-type="author"><name><surname>Thevenon</surname><given-names>Julien</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">26</xref></contrib><contrib contrib-type="author"><name><surname>Adès</surname><given-names>Lesley</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Callewaert</surname><given-names>Bert</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Julia</surname><given-names>Sophie</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Thauvin-Robinet</surname><given-names>Christel</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Gueneau</surname><given-names>Lucie</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Courcet</surname><given-names>Jean-Benoit</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Lopez</surname><given-names>Estelle</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Holman</surname><given-names>Katherine</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Renard</surname><given-names>Marjolijn</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Plauchu</surname><given-names>Henri</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Plessis</surname><given-names>Ghislaine</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>De Backer</surname><given-names>Julie</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Child</surname><given-names>Anne</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Arno</surname><given-names>Gavin</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Duplomb</surname><given-names>Laurence</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Callier</surname><given-names>Patrick</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Aral</surname><given-names>Bernard</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Vabres</surname><given-names>Pierre</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Gigot</surname><given-names>Nadège</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Arbustini</surname><given-names>Eloisa</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Grasso</surname><given-names>Maurizia</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Robinson</surname><given-names>Peter N.</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Goizet</surname><given-names>Cyril</given-names></name><xref rid="aff16" ref-type="aff">16</xref><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Baumann</surname><given-names>Clarisse</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Di Rocco</surname><given-names>Maja</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Sanchez Del Pozo</surname><given-names>Jaime</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Huet</surname><given-names>Frédéric</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Jondeau</surname><given-names>Guillaume</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Collod-Beroud</surname><given-names>Gwenaëlle</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Beroud</surname><given-names>Christophe</given-names></name><xref rid="aff22" ref-type="aff">22</xref><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Amiel</surname><given-names>Jeanne</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valérie</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Rivière</surname><given-names>Jean-Baptiste</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Boileau</surname><given-names>Catherine</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>De Paepe</surname><given-names>Anne</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Faivre</surname><given-names>Laurence</given-names></name><email>laurence.faivre@chu-dijon.fr</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Equipe d'Accueil 4271, Equipe Génétique des Anomalies du Développement, Université de Bourgogne, F-21079 Dijon, France</aff><aff id="aff2"><label>2</label>Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d’Enfants, F-21079 Dijon, France</aff><aff id="aff3"><label>3</label>Marfan Research Group, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</aff><aff id="aff4"><label>4</label>Discipline of Paediatrics and Child Health, University of Sydney, NSW 2006 Sydney, Australia</aff><aff id="aff5"><label>5</label>Department of Clinical Genetics, The Children’s Hospital at Westmead, NSW 2006 Sydney, Australia</aff><aff id="aff6"><label>6</label>Center for Medical Genetics, Ghent University Hospital, B-9000 Ghent, Belgium</aff><aff id="aff7"><label>7</label>Service de Génétique, Centre Hospitalier Universitaire Purpan, F-31000 Toulouse, France</aff><aff id="aff8"><label>8</label>Département de Génétique, Université Claude Bernard Lyon 1 et Hôpital Louis Pradel, Hospices Civils de Lyon, F-69977 Bron CEDEX, France</aff><aff id="aff9"><label>9</label>Service de Génétique, Centre Hospitalier Universitaire, F-14033 Caen CEDEX 9, France</aff><aff id="aff10"><label>10</label>Department of Cardiac and Vascular Sciences, St. George’s University of London, London SW17 0RE, UK</aff><aff id="aff11"><label>11</label>Service de Cytogénétique, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</aff><aff id="aff12"><label>12</label>Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire, F-21079 Dijon, France</aff><aff id="aff13"><label>13</label>Service de Dermatologie, Centre Hospitalier Universitaire Bocage, F-21079 Dijon, France</aff><aff id="aff14"><label>14</label>Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, I-27100 Pavia, Italy</aff><aff id="aff15"><label>15</label>Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, D-13353 Berlin, Germany</aff><aff id="aff16"><label>16</label>Centre de Référence pour les Anomalies du Développement, Service de Génétique, Hôpital Pellegrin, Centre Hospitalier Universitaire Bordeaux, F-33076 Bordeaux, France</aff><aff id="aff17"><label>17</label>Equipe d'Accueil 4576, Laboratoire Maladies Rares: Génétique et Métabolisme, Université Bordeaux, F-33076 Bordeaux, France</aff><aff id="aff18"><label>18</label>Service de Génétique Médicale, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, F-75019 Paris, France</aff><aff id="aff19"><label>19</label>Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, I-16147 Genova, Italy</aff><aff id="aff20"><label>20</label>Department of Genetics, Division of Endocrinology, 12 de Octubre Hospital, S-28041 Madrid, Spain</aff><aff id="aff21"><label>21</label>Institut National de la Santé et de la Recherche Médicale U698 and Centre de Référence pour les Syndromes de Marfan et Apparentés, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, F-75877 Paris, France</aff><aff id="aff22"><label>22</label>Institut National de la Santé et de la Recherche Médicale UMR_S 910, Université Aix-Marseille, F-13000 Marseille, France</aff><aff id="aff23"><label>23</label>Département de Génétique Médicale, Hôpital d’Enfants de la Timone, Assistance Publique-Hopitaux de Marseille, F-13000 Marseille, France</aff><aff id="aff24"><label>24</label>Institut National de la Santé et de la Recherche Médicale U781 and Département de Génétique, Fondation Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes-Sorbonne Paris Cité, F-75015 Paris, France</aff><aff id="aff25"><label>25</label>Laboratoire de Génétique Moléculaire, Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Université Versailles-Saint Quentin en Yvelines, F-92104 Boulogne, France</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>laurence.faivre@chu-dijon.fr</email></corresp><fn id="fn1"><label>26</label><p>These authors contributed equally to the work</p></fn></author-notes><pub-date pub-type="ppub"><day>02</day><month>11</month><year>2012</year></pub-date><volume>91</volume><issue>5</issue><fpage>950</fpage><lpage>957</lpage><history><date date-type="received"><day>31</day><month>8</month><year>2012</year></date><date date-type="rev-recd"><day>20</day><month>9</month><year>2012</year></date><date date-type="accepted"><day>10</day><month>10</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of <italic>SKI</italic>. Direct sequencing of <italic>SKI</italic> further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of <italic>SKI</italic>. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in <italic>Ski</italic>-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-β-signaling pathway.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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