Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
Identifieur interne : 000093 ( France/Analysis ); précédent : 000092; suivant : 000094Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
Auteurs : Viviana Cordeddu [Italie] ; Jiani C. Yin [Canada] ; Cecilia Gunnarsson [Suède] ; Carl Virtanen [Canada] ; Séverine Drunat [France] ; Francesca Lepri [Italie] ; Alessandro De Luca [Italie] ; Cesare Rossi [Italie] ; Andrea Ciolfi [Italie] ; Trevor J. Pugh [Canada] ; Alessandro Bruselles [Italie] ; James R. Priest [États-Unis] ; Len A. Pennacchio [États-Unis] ; Zhibin Lu [Canada] ; Arnavaz Danesh [Canada] ; Rene Quevedo [Canada] ; Alaa Hamid [Canada] ; Simone Martinelli [Italie] ; Francesca Pantaleoni [Italie] ; Maria Gnazzo [Italie] ; Paola Daniele [Italie] ; Christina Lissewski [Allemagne] ; Gianfranco Bocchinfuso [Italie] ; Lorenzo Stella [Italie] ; Sylvie Odent [France] ; Nicole Philip [France] ; Laurence Faivre [France] ; Marketa Vlckova [République tchèque] ; Eva Seemanova [République tchèque] ; Cristina Digilio [Italie] ; Martin Zenker [Allemagne] ; Giuseppe Zampino [Italie] ; Alain Verloes [France] ; Bruno Dallapiccola [Italie] ; Amy E. Roberts [États-Unis] ; Hélène Cavé [France] ; Bruce D. Gelb [États-Unis] ; Benjamin G. Neel [Canada, États-Unis] ; Marco Tartaglia [Italie]Source :
- Human mutation [ 1059-7794 ] ; 2015.
Abstract
The RASopathies constitute a family of autosomal dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering son of sevenless, Drosophila, homolog 2 (
Url:
DOI: 10.1002/humu.22834
PubMed: 26173643
PubMed Central: 4604019
Affiliations:
- Allemagne, Canada, France, Italie, République tchèque, Suède, États-Unis
- Latium, Provence-Alpes-Côte d'Azur, Saxe-Anhalt, Île-de-France
- Magdebourg, Marseille, Paris, Rome
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 003936
- to stream Pmc, to step Curation: 003935
- to stream Pmc, to step Checkpoint: 001538
- to stream Ncbi, to step Merge: 007607
- to stream Ncbi, to step Curation: 007607
- to stream Ncbi, to step Checkpoint: 007607
- to stream Main, to step Merge: 002189
- to stream Main, to step Curation: 002186
- to stream Main, to step Exploration: 002186
- to stream France, to step Extraction: 000093
Links to Exploration step
PMC:4604019Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome</title><author><name sortKey="Cordeddu, Viviana" sort="Cordeddu, Viviana" uniqKey="Cordeddu V" first="Viviana" last="Cordeddu">Viviana Cordeddu</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Dipartimento di Scienze Psicologiche, della Salute e del Territorio, Università degli Studi “G. d’Annunzio”, 66100 Chieti-Pescara, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Psicologiche, della Salute e del Territorio, Università degli Studi “G. d’Annunzio”, 66100 Chieti-Pescara</wicri:regionArea><wicri:noRegion>66100 Chieti-Pescara</wicri:noRegion></affiliation></author><author><name sortKey="Yin, Jiani C" sort="Yin, Jiani C" uniqKey="Yin J" first="Jiani C." last="Yin">Jiani C. Yin</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Gunnarsson, Cecilia" sort="Gunnarsson, Cecilia" uniqKey="Gunnarsson C" first="Cecilia" last="Gunnarsson">Cecilia Gunnarsson</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences, Linköping University, 581 83 Linköping, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences, Linköping University, 581 83 Linköping</wicri:regionArea><wicri:noRegion>581 83 Linköping</wicri:noRegion></affiliation></author><author><name sortKey="Virtanen, Carl" sort="Virtanen, Carl" uniqKey="Virtanen C" first="Carl" last="Virtanen">Carl Virtanen</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Drunat, Severine" sort="Drunat, Severine" uniqKey="Drunat S" first="Séverine" last="Drunat">Séverine Drunat</name><affiliation wicri:level="1"><nlm:aff id="A5">Département de Génétique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Lepri, Francesca" sort="Lepri, Francesca" uniqKey="Lepri F" first="Francesca" last="Lepri">Francesca Lepri</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="De Luca, Alessandro" sort="De Luca, Alessandro" uniqKey="De Luca A" first="Alessandro" last="De Luca">Alessandro De Luca</name><affiliation wicri:level="1"><nlm:aff id="A7">IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Rossi, Cesare" sort="Rossi, Cesare" uniqKey="Rossi C" first="Cesare" last="Rossi">Cesare Rossi</name><affiliation wicri:level="1"><nlm:aff id="A8">UO Genetica Medica, Policlinico S. Orsola-Malpighi, 40138 Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>UO Genetica Medica, Policlinico S. Orsola-Malpighi, 40138 Bologna</wicri:regionArea><wicri:noRegion>40138 Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Ciolfi, Andrea" sort="Ciolfi, Andrea" uniqKey="Ciolfi A" first="Andrea" last="Ciolfi">Andrea Ciolfi</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Pugh, Trevor J" sort="Pugh, Trevor J" uniqKey="Pugh T" first="Trevor J." last="Pugh">Trevor J. Pugh</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Bruselles, Alessandro" sort="Bruselles, Alessandro" uniqKey="Bruselles A" first="Alessandro" last="Bruselles">Alessandro Bruselles</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Priest, James R" sort="Priest, James R" uniqKey="Priest J" first="James R." last="Priest">James R. Priest</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, CA 94305, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, CA 94305</wicri:regionArea><wicri:noRegion>CA 94305</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A10">Child Health Research Institute; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Child Health Research Institute; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea><wicri:noRegion>CA 94305</wicri:noRegion></affiliation></author><author><name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name><affiliation wicri:level="1"><nlm:aff id="A11">Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720</wicri:regionArea><wicri:noRegion>CA 94720</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">US Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>US Department of Energy Joint Genome Institute, Walnut Creek, CA 94598</wicri:regionArea><wicri:noRegion>CA 94598</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Zhibin" sort="Lu, Zhibin" uniqKey="Lu Z" first="Zhibin" last="Lu">Zhibin Lu</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Danesh, Arnavaz" sort="Danesh, Arnavaz" uniqKey="Danesh A" first="Arnavaz" last="Danesh">Arnavaz Danesh</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Quevedo, Rene" sort="Quevedo, Rene" uniqKey="Quevedo R" first="Rene" last="Quevedo">Rene Quevedo</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Hamid, Alaa" sort="Hamid, Alaa" uniqKey="Hamid A" first="Alaa" last="Hamid">Alaa Hamid</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Martinelli, Simone" sort="Martinelli, Simone" uniqKey="Martinelli S" first="Simone" last="Martinelli">Simone Martinelli</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Pantaleoni, Francesca" sort="Pantaleoni, Francesca" uniqKey="Pantaleoni F" first="Francesca" last="Pantaleoni">Francesca Pantaleoni</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Gnazzo, Maria" sort="Gnazzo, Maria" uniqKey="Gnazzo M" first="Maria" last="Gnazzo">Maria Gnazzo</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Daniele, Paola" sort="Daniele, Paola" uniqKey="Daniele P" first="Paola" last="Daniele">Paola Daniele</name><affiliation wicri:level="1"><nlm:aff id="A7">IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Lissewski, Christina" sort="Lissewski, Christina" uniqKey="Lissewski C" first="Christina" last="Lissewski">Christina Lissewski</name><affiliation wicri:level="3"><nlm:aff id="A13">Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Bocchinfuso, Gianfranco" sort="Bocchinfuso, Gianfranco" uniqKey="Bocchinfuso G" first="Gianfranco" last="Bocchinfuso">Gianfranco Bocchinfuso</name><affiliation wicri:level="1"><nlm:aff id="A14">Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Stella, Lorenzo" sort="Stella, Lorenzo" uniqKey="Stella L" first="Lorenzo" last="Stella">Lorenzo Stella</name><affiliation wicri:level="1"><nlm:aff id="A14">Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="1"><nlm:aff id="A15">Service de Génétique Clinique, Hôpital SUD, 35200 Rennes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hôpital SUD, 35200 Rennes</wicri:regionArea><wicri:noRegion>35200 Rennes</wicri:noRegion><wicri:noRegion>35200 Rennes</wicri:noRegion></affiliation></author><author><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><affiliation wicri:level="1"><nlm:aff id="A16">Département de Génétique Médicale, Hôpital d’Enfants de la Timone, 13385 Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, Hôpital d’Enfants de la Timone, 13385 Marseille</wicri:regionArea><wicri:noRegion>13385 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="1"><nlm:aff id="A17">Centre de Génétique, Hôpital d’Enfants, 21000 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, 21000 Dijon</wicri:regionArea><wicri:noRegion>21000 Dijon</wicri:noRegion><wicri:noRegion>21000 Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Vlckova, Marketa" sort="Vlckova, Marketa" uniqKey="Vlckova M" first="Marketa" last="Vlckova">Marketa Vlckova</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague</wicri:regionArea><wicri:noRegion>150 06 Prague</wicri:noRegion></affiliation></author><author><name sortKey="Seemanova, Eva" sort="Seemanova, Eva" uniqKey="Seemanova E" first="Eva" last="Seemanova">Eva Seemanova</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague</wicri:regionArea><wicri:noRegion>150 06 Prague</wicri:noRegion></affiliation></author><author><name sortKey="Digilio, Cristina" sort="Digilio, Cristina" uniqKey="Digilio C" first="Cristina" last="Digilio">Cristina Digilio</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="3"><nlm:aff id="A13">Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Zampino, Giuseppe" sort="Zampino, Giuseppe" uniqKey="Zampino G" first="Giuseppe" last="Zampino">Giuseppe Zampino</name><affiliation wicri:level="1"><nlm:aff id="A19">Istituto di Pediatria, Università Cattolica del Sacro Cuore, 00168 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Pediatria, Università Cattolica del Sacro Cuore, 00168 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:aff id="A5">Département de Génétique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea><wicri:noRegion>MA 02115</wicri:noRegion></affiliation></author><author><name sortKey="Cave, Helene" sort="Cave, Helene" uniqKey="Cave H" first="Hélène" last="Cavé">Hélène Cavé</name><affiliation wicri:level="1"><nlm:aff id="A5">Département de Génétique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A21">INSERM UMR_S1131, Institut Universitaire d’Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, 75205 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S1131, Institut Universitaire d’Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, 75205 Paris</wicri:regionArea><wicri:noRegion>75205 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation wicri:level="1"><nlm:aff id="A22">The Mindich Child Health and Development Institute, and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Mindich Child Health and Development Institute, and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea><wicri:noRegion>NY 10029</wicri:noRegion></affiliation></author><author><name sortKey="Neel, Benjamin G" sort="Neel, Benjamin G" uniqKey="Neel B" first="Benjamin G." last="Neel">Benjamin G. Neel</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A23">The Laura and Isaac Perlmutter Cancer Center, New York University School of Medicine, New York, NY 10016, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Laura and Isaac Perlmutter Cancer Center, New York University School of Medicine, New York, NY 10016</wicri:regionArea><wicri:noRegion>NY 10016</wicri:noRegion></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26173643</idno><idno type="pmc">4604019</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604019</idno><idno type="RBID">PMC:4604019</idno><idno type="doi">10.1002/humu.22834</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">003936</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003936</idno><idno type="wicri:Area/Pmc/Curation">003935</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003935</idno><idno type="wicri:Area/Pmc/Checkpoint">001538</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001538</idno><idno type="wicri:Area/Ncbi/Merge">007607</idno><idno type="wicri:Area/Ncbi/Curation">007607</idno><idno type="wicri:Area/Ncbi/Checkpoint">007607</idno><idno type="wicri:doubleKey">1059-7794:2015:Cordeddu V:activating:mutations:affecting</idno><idno type="wicri:Area/Main/Merge">002189</idno><idno type="wicri:Area/Main/Curation">002186</idno><idno type="wicri:Area/Main/Exploration">002186</idno><idno type="wicri:Area/France/Extraction">000093</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome</title><author><name sortKey="Cordeddu, Viviana" sort="Cordeddu, Viviana" uniqKey="Cordeddu V" first="Viviana" last="Cordeddu">Viviana Cordeddu</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">Dipartimento di Scienze Psicologiche, della Salute e del Territorio, Università degli Studi “G. d’Annunzio”, 66100 Chieti-Pescara, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze Psicologiche, della Salute e del Territorio, Università degli Studi “G. d’Annunzio”, 66100 Chieti-Pescara</wicri:regionArea><wicri:noRegion>66100 Chieti-Pescara</wicri:noRegion></affiliation></author><author><name sortKey="Yin, Jiani C" sort="Yin, Jiani C" uniqKey="Yin J" first="Jiani C." last="Yin">Jiani C. Yin</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Gunnarsson, Cecilia" sort="Gunnarsson, Cecilia" uniqKey="Gunnarsson C" first="Cecilia" last="Gunnarsson">Cecilia Gunnarsson</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences, Linköping University, 581 83 Linköping, Sweden</nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical and Experimental Medicine, Division of Clinical Genetics, Faculty of Health Sciences, Linköping University, 581 83 Linköping</wicri:regionArea><wicri:noRegion>581 83 Linköping</wicri:noRegion></affiliation></author><author><name sortKey="Virtanen, Carl" sort="Virtanen, Carl" uniqKey="Virtanen C" first="Carl" last="Virtanen">Carl Virtanen</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Drunat, Severine" sort="Drunat, Severine" uniqKey="Drunat S" first="Séverine" last="Drunat">Séverine Drunat</name><affiliation wicri:level="1"><nlm:aff id="A5">Département de Génétique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Lepri, Francesca" sort="Lepri, Francesca" uniqKey="Lepri F" first="Francesca" last="Lepri">Francesca Lepri</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="De Luca, Alessandro" sort="De Luca, Alessandro" uniqKey="De Luca A" first="Alessandro" last="De Luca">Alessandro De Luca</name><affiliation wicri:level="1"><nlm:aff id="A7">IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Rossi, Cesare" sort="Rossi, Cesare" uniqKey="Rossi C" first="Cesare" last="Rossi">Cesare Rossi</name><affiliation wicri:level="1"><nlm:aff id="A8">UO Genetica Medica, Policlinico S. Orsola-Malpighi, 40138 Bologna, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>UO Genetica Medica, Policlinico S. Orsola-Malpighi, 40138 Bologna</wicri:regionArea><wicri:noRegion>40138 Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Ciolfi, Andrea" sort="Ciolfi, Andrea" uniqKey="Ciolfi A" first="Andrea" last="Ciolfi">Andrea Ciolfi</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Pugh, Trevor J" sort="Pugh, Trevor J" uniqKey="Pugh T" first="Trevor J." last="Pugh">Trevor J. Pugh</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Bruselles, Alessandro" sort="Bruselles, Alessandro" uniqKey="Bruselles A" first="Alessandro" last="Bruselles">Alessandro Bruselles</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Priest, James R" sort="Priest, James R" uniqKey="Priest J" first="James R." last="Priest">James R. Priest</name><affiliation wicri:level="1"><nlm:aff id="A9">Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, CA 94305, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Pediatric Cardiology, Stanford University School of Medicine, Stanford University, Stanford, CA 94305</wicri:regionArea><wicri:noRegion>CA 94305</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A10">Child Health Research Institute; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Child Health Research Institute; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305</wicri:regionArea><wicri:noRegion>CA 94305</wicri:noRegion></affiliation></author><author><name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name><affiliation wicri:level="1"><nlm:aff id="A11">Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720</wicri:regionArea><wicri:noRegion>CA 94720</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A12">US Department of Energy Joint Genome Institute, Walnut Creek, CA 94598, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>US Department of Energy Joint Genome Institute, Walnut Creek, CA 94598</wicri:regionArea><wicri:noRegion>CA 94598</wicri:noRegion></affiliation></author><author><name sortKey="Lu, Zhibin" sort="Lu, Zhibin" uniqKey="Lu Z" first="Zhibin" last="Lu">Zhibin Lu</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Danesh, Arnavaz" sort="Danesh, Arnavaz" uniqKey="Danesh A" first="Arnavaz" last="Danesh">Arnavaz Danesh</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Quevedo, Rene" sort="Quevedo, Rene" uniqKey="Quevedo R" first="Rene" last="Quevedo">Rene Quevedo</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Hamid, Alaa" sort="Hamid, Alaa" uniqKey="Hamid A" first="Alaa" last="Hamid">Alaa Hamid</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation></author><author><name sortKey="Martinelli, Simone" sort="Martinelli, Simone" uniqKey="Martinelli S" first="Simone" last="Martinelli">Simone Martinelli</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Pantaleoni, Francesca" sort="Pantaleoni, Francesca" uniqKey="Pantaleoni F" first="Francesca" last="Pantaleoni">Francesca Pantaleoni</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Gnazzo, Maria" sort="Gnazzo, Maria" uniqKey="Gnazzo M" first="Maria" last="Gnazzo">Maria Gnazzo</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Daniele, Paola" sort="Daniele, Paola" uniqKey="Daniele P" first="Paola" last="Daniele">Paola Daniele</name><affiliation wicri:level="1"><nlm:aff id="A7">IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Lissewski, Christina" sort="Lissewski, Christina" uniqKey="Lissewski C" first="Christina" last="Lissewski">Christina Lissewski</name><affiliation wicri:level="3"><nlm:aff id="A13">Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Bocchinfuso, Gianfranco" sort="Bocchinfuso, Gianfranco" uniqKey="Bocchinfuso G" first="Gianfranco" last="Bocchinfuso">Gianfranco Bocchinfuso</name><affiliation wicri:level="1"><nlm:aff id="A14">Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Stella, Lorenzo" sort="Stella, Lorenzo" uniqKey="Stella L" first="Lorenzo" last="Stella">Lorenzo Stella</name><affiliation wicri:level="1"><nlm:aff id="A14">Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma ‘Tor Vergata’, 00133 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="1"><nlm:aff id="A15">Service de Génétique Clinique, Hôpital SUD, 35200 Rennes, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Clinique, Hôpital SUD, 35200 Rennes</wicri:regionArea><wicri:noRegion>35200 Rennes</wicri:noRegion><wicri:noRegion>35200 Rennes</wicri:noRegion></affiliation></author><author><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><affiliation wicri:level="1"><nlm:aff id="A16">Département de Génétique Médicale, Hôpital d’Enfants de la Timone, 13385 Marseille, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique Médicale, Hôpital d’Enfants de la Timone, 13385 Marseille</wicri:regionArea><wicri:noRegion>13385 Marseille</wicri:noRegion><placeName><settlement type="city">Marseille</settlement><region type="région" nuts="2">Provence-Alpes-Côte d'Azur</region></placeName></affiliation></author><author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><affiliation wicri:level="1"><nlm:aff id="A17">Centre de Génétique, Hôpital d’Enfants, 21000 Dijon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique, Hôpital d’Enfants, 21000 Dijon</wicri:regionArea><wicri:noRegion>21000 Dijon</wicri:noRegion><wicri:noRegion>21000 Dijon</wicri:noRegion></affiliation></author><author><name sortKey="Vlckova, Marketa" sort="Vlckova, Marketa" uniqKey="Vlckova M" first="Marketa" last="Vlckova">Marketa Vlckova</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague</wicri:regionArea><wicri:noRegion>150 06 Prague</wicri:noRegion></affiliation></author><author><name sortKey="Seemanova, Eva" sort="Seemanova, Eva" uniqKey="Seemanova E" first="Eva" last="Seemanova">Eva Seemanova</name><affiliation wicri:level="1"><nlm:aff id="A18">Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic</nlm:aff><country xml:lang="fr">République tchèque</country><wicri:regionArea>Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, 150 06 Prague</wicri:regionArea><wicri:noRegion>150 06 Prague</wicri:noRegion></affiliation></author><author><name sortKey="Digilio, Cristina" sort="Digilio, Cristina" uniqKey="Digilio C" first="Cristina" last="Digilio">Cristina Digilio</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name><affiliation wicri:level="3"><nlm:aff id="A13">Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University Hospital of Magdeburg, Otto-von-Guericke-University, 39106 Magdeburg</wicri:regionArea><placeName><region type="land" nuts="2">Saxe-Anhalt</region><settlement type="city">Magdebourg</settlement></placeName></affiliation></author><author><name sortKey="Zampino, Giuseppe" sort="Zampino, Giuseppe" uniqKey="Zampino G" first="Giuseppe" last="Zampino">Giuseppe Zampino</name><affiliation wicri:level="1"><nlm:aff id="A19">Istituto di Pediatria, Università Cattolica del Sacro Cuore, 00168 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Pediatria, Università Cattolica del Sacro Cuore, 00168 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name><affiliation wicri:level="1"><nlm:aff id="A5">Département de Génétique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name><affiliation wicri:level="1"><nlm:aff id="A20">Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA 02115, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cardiology and Division of Genetics, Boston Children’s Hospital, Boston, MA 02115</wicri:regionArea><wicri:noRegion>MA 02115</wicri:noRegion></affiliation></author><author><name sortKey="Cave, Helene" sort="Cave, Helene" uniqKey="Cave H" first="Hélène" last="Cavé">Hélène Cavé</name><affiliation wicri:level="1"><nlm:aff id="A5">Département de Génétique, Hôpital Robert Debré, 75019 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Département de Génétique, Hôpital Robert Debré, 75019 Paris</wicri:regionArea><wicri:noRegion>75019 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A21">INSERM UMR_S1131, Institut Universitaire d’Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, 75205 Paris, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR_S1131, Institut Universitaire d’Hématologie, Université Paris Diderot, Paris-Sorbonne-Cité, 75205 Paris</wicri:regionArea><wicri:noRegion>75205 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region></placeName></affiliation></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><affiliation wicri:level="1"><nlm:aff id="A22">The Mindich Child Health and Development Institute, and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Mindich Child Health and Development Institute, and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea><wicri:noRegion>NY 10029</wicri:noRegion></affiliation></author><author><name sortKey="Neel, Benjamin G" sort="Neel, Benjamin G" uniqKey="Neel B" first="Benjamin G." last="Neel">Benjamin G. Neel</name><affiliation wicri:level="1"><nlm:aff id="A3">Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S, Canada</nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Princess Margaret Cancer Centre, University Health Network and Department of Medical Biophysics, University of Toronto, Toronto, Ontario, ON M5S</wicri:regionArea><wicri:noRegion>ON M5S</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A23">The Laura and Isaac Perlmutter Cancer Center, New York University School of Medicine, New York, NY 10016, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Laura and Isaac Perlmutter Cancer Center, New York University School of Medicine, New York, NY 10016</wicri:regionArea><wicri:noRegion>NY 10016</wicri:noRegion></affiliation></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><affiliation wicri:level="1"><nlm:aff id="A1">Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A6">Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Bambino Gesù Children’s Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">The RASopathies constitute a family of autosomal dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering son of sevenless, Drosophila, homolog 2 (<italic>SOS2)</italic>, which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS. Four missense mutations were identified in five unrelated sporadic cases and families transmitting NS. Disease-causing mutations affected three conserved residues located in the Dbl homology domain, of which two are directly involved in the intramolecular binding network maintaining SOS2 in its auto-inhibited conformation. All mutations were found to promote enhanced signaling from RAS to ERK. Similar to NS-causing <italic>SOS1</italic> mutations, the phenotype associated with <italic>SOS2</italic> defects is characterized by normal development and growth, as well as marked ectodermal involvement. Unlike <italic>SOS1</italic> mutations, however, those in <italic>SOS2</italic> are restricted to the Dbl homology domain.</p></div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>France</li><li>Italie</li><li>République tchèque</li><li>Suède</li><li>États-Unis</li></country><region><li>Latium</li><li>Provence-Alpes-Côte d'Azur</li><li>Saxe-Anhalt</li><li>Île-de-France</li></region><settlement><li>Magdebourg</li><li>Marseille</li><li>Paris</li><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Cordeddu, Viviana" sort="Cordeddu, Viviana" uniqKey="Cordeddu V" first="Viviana" last="Cordeddu">Viviana Cordeddu</name></region><name sortKey="Bocchinfuso, Gianfranco" sort="Bocchinfuso, Gianfranco" uniqKey="Bocchinfuso G" first="Gianfranco" last="Bocchinfuso">Gianfranco Bocchinfuso</name><name sortKey="Bruselles, Alessandro" sort="Bruselles, Alessandro" uniqKey="Bruselles A" first="Alessandro" last="Bruselles">Alessandro Bruselles</name><name sortKey="Ciolfi, Andrea" sort="Ciolfi, Andrea" uniqKey="Ciolfi A" first="Andrea" last="Ciolfi">Andrea Ciolfi</name><name sortKey="Cordeddu, Viviana" sort="Cordeddu, Viviana" uniqKey="Cordeddu V" first="Viviana" last="Cordeddu">Viviana Cordeddu</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Daniele, Paola" sort="Daniele, Paola" uniqKey="Daniele P" first="Paola" last="Daniele">Paola Daniele</name><name sortKey="De Luca, Alessandro" sort="De Luca, Alessandro" uniqKey="De Luca A" first="Alessandro" last="De Luca">Alessandro De Luca</name><name sortKey="Digilio, Cristina" sort="Digilio, Cristina" uniqKey="Digilio C" first="Cristina" last="Digilio">Cristina Digilio</name><name sortKey="Gnazzo, Maria" sort="Gnazzo, Maria" uniqKey="Gnazzo M" first="Maria" last="Gnazzo">Maria Gnazzo</name><name sortKey="Lepri, Francesca" sort="Lepri, Francesca" uniqKey="Lepri F" first="Francesca" last="Lepri">Francesca Lepri</name><name sortKey="Martinelli, Simone" sort="Martinelli, Simone" uniqKey="Martinelli S" first="Simone" last="Martinelli">Simone Martinelli</name><name sortKey="Pantaleoni, Francesca" sort="Pantaleoni, Francesca" uniqKey="Pantaleoni F" first="Francesca" last="Pantaleoni">Francesca Pantaleoni</name><name sortKey="Rossi, Cesare" sort="Rossi, Cesare" uniqKey="Rossi C" first="Cesare" last="Rossi">Cesare Rossi</name><name sortKey="Stella, Lorenzo" sort="Stella, Lorenzo" uniqKey="Stella L" first="Lorenzo" last="Stella">Lorenzo Stella</name><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name><name sortKey="Zampino, Giuseppe" sort="Zampino, Giuseppe" uniqKey="Zampino G" first="Giuseppe" last="Zampino">Giuseppe Zampino</name></country><country name="Canada"><noRegion><name sortKey="Yin, Jiani C" sort="Yin, Jiani C" uniqKey="Yin J" first="Jiani C." last="Yin">Jiani C. Yin</name></noRegion><name sortKey="Danesh, Arnavaz" sort="Danesh, Arnavaz" uniqKey="Danesh A" first="Arnavaz" last="Danesh">Arnavaz Danesh</name><name sortKey="Hamid, Alaa" sort="Hamid, Alaa" uniqKey="Hamid A" first="Alaa" last="Hamid">Alaa Hamid</name><name sortKey="Lu, Zhibin" sort="Lu, Zhibin" uniqKey="Lu Z" first="Zhibin" last="Lu">Zhibin Lu</name><name sortKey="Neel, Benjamin G" sort="Neel, Benjamin G" uniqKey="Neel B" first="Benjamin G." last="Neel">Benjamin G. Neel</name><name sortKey="Pugh, Trevor J" sort="Pugh, Trevor J" uniqKey="Pugh T" first="Trevor J." last="Pugh">Trevor J. Pugh</name><name sortKey="Quevedo, Rene" sort="Quevedo, Rene" uniqKey="Quevedo R" first="Rene" last="Quevedo">Rene Quevedo</name><name sortKey="Virtanen, Carl" sort="Virtanen, Carl" uniqKey="Virtanen C" first="Carl" last="Virtanen">Carl Virtanen</name></country><country name="Suède"><noRegion><name sortKey="Gunnarsson, Cecilia" sort="Gunnarsson, Cecilia" uniqKey="Gunnarsson C" first="Cecilia" last="Gunnarsson">Cecilia Gunnarsson</name></noRegion></country><country name="France"><region name="Île-de-France"><name sortKey="Drunat, Severine" sort="Drunat, Severine" uniqKey="Drunat S" first="Séverine" last="Drunat">Séverine Drunat</name></region><name sortKey="Cave, Helene" sort="Cave, Helene" uniqKey="Cave H" first="Hélène" last="Cavé">Hélène Cavé</name><name sortKey="Cave, Helene" sort="Cave, Helene" uniqKey="Cave H" first="Hélène" last="Cavé">Hélène Cavé</name><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><name sortKey="Philip, Nicole" sort="Philip, Nicole" uniqKey="Philip N" first="Nicole" last="Philip">Nicole Philip</name><name sortKey="Verloes, Alain" sort="Verloes, Alain" uniqKey="Verloes A" first="Alain" last="Verloes">Alain Verloes</name></country><country name="États-Unis"><noRegion><name sortKey="Priest, James R" sort="Priest, James R" uniqKey="Priest J" first="James R." last="Priest">James R. Priest</name></noRegion><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D." last="Gelb">Bruce D. Gelb</name><name sortKey="Neel, Benjamin G" sort="Neel, Benjamin G" uniqKey="Neel B" first="Benjamin G." last="Neel">Benjamin G. Neel</name><name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name><name sortKey="Pennacchio, Len A" sort="Pennacchio, Len A" uniqKey="Pennacchio L" first="Len A." last="Pennacchio">Len A. Pennacchio</name><name sortKey="Priest, James R" sort="Priest, James R" uniqKey="Priest J" first="James R." last="Priest">James R. Priest</name><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E." last="Roberts">Amy E. Roberts</name></country><country name="Allemagne"><region name="Saxe-Anhalt"><name sortKey="Lissewski, Christina" sort="Lissewski, Christina" uniqKey="Lissewski C" first="Christina" last="Lissewski">Christina Lissewski</name></region><name sortKey="Zenker, Martin" sort="Zenker, Martin" uniqKey="Zenker M" first="Martin" last="Zenker">Martin Zenker</name></country><country name="République tchèque"><noRegion><name sortKey="Vlckova, Marketa" sort="Vlckova, Marketa" uniqKey="Vlckova M" first="Marketa" last="Vlckova">Marketa Vlckova</name></noRegion><name sortKey="Seemanova, Eva" sort="Seemanova, Eva" uniqKey="Seemanova E" first="Eva" last="Seemanova">Eva Seemanova</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000093 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000093 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= France
|étape= Analysis
|type= RBID
|clé= PMC:4604019
|texte= Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i -Sk "pubmed:26173643" \
| HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |