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Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

2005; Wiley; Volume: 138A; Issue: 1 Linguagem: Inglês

10.1002/ajmg.a.30912

1552-4833

Robert Pogue, Nadia Ehtesham, Gabriela M. Repetto, Roque Carrero‐Valenzuela, Cristina Bazán de Casella, Silvia Pintos de Pons, María Luisa Martínez‐Frías, S. Heuertz, Valérie Cormier‐Daire, Daniel H. Cohn,

RNA modifications and cancer

American Journal of Medical Genetics Part AVolume 138A, Issue 1 p. 75-78 Research Letter Probable identity-by-descent for a mutation in the Dyggve–Melchior–Clausen/Smith–McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain Robert Pogue, Robert Pogue Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, CaliforniaSearch for more papers by this authorNadia Ehtesham, Nadia Ehtesham Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, CaliforniaSearch for more papers by this authorGabriela M. Repetto, Gabriela M. Repetto Facultad de Medicina, Clinica Alemana-Universidad del Desarrollo, Santiago, ChileSearch for more papers by this authorRoque Carrero-Valenzuela, Roque Carrero-Valenzuela Centro de Genética Médica, Orientación Genética, Departamento Biomédico, Universidad Nacional de Tucumán, Tucumán, ArgentinaSearch for more papers by this authorCristina Bazán de Casella, Cristina Bazán de Casella Orientación Medicina Infanto-Juvenil, Departamento de Maternidad e Infancia, de la Facultad de Medicina de la Universidad Nacional de Tucumán, Tucumán, Argentina Servicio de Endocrinología Pediátrica del Hospital del Niño Jesús, Tucumán, ArgentinaSearch for more papers by this authorSilvia Pintos de Pons, Silvia Pintos de Pons Centro de Genética Médica, Orientación Genética, Departamento Biomédico, Universidad Nacional de Tucumán, Tucumán, ArgentinaSearch for more papers by this authorMaria Luisa Martínez-Frías, Maria Luisa Martínez-Frías Centro de Investigación Sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, SpainSearch for more papers by this authorSolange Heuertz, Solange Heuertz Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, FranceSearch for more papers by this authorValerie Cormier-Daire, Valerie Cormier-Daire Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, FranceSearch for more papers by this authorDaniel H. Cohn, Corresponding Author Daniel H. Cohn [email protected] Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, California Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaMedical Genetics, SSB-3, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles, CA 90048.Search for more papers by this author Robert Pogue, Robert Pogue Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, CaliforniaSearch for more papers by this authorNadia Ehtesham, Nadia Ehtesham Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, CaliforniaSearch for more papers by this authorGabriela M. Repetto, Gabriela M. Repetto Facultad de Medicina, Clinica Alemana-Universidad del Desarrollo, Santiago, ChileSearch for more papers by this authorRoque Carrero-Valenzuela, Roque Carrero-Valenzuela Centro de Genética Médica, Orientación Genética, Departamento Biomédico, Universidad Nacional de Tucumán, Tucumán, ArgentinaSearch for more papers by this authorCristina Bazán de Casella, Cristina Bazán de Casella Orientación Medicina Infanto-Juvenil, Departamento de Maternidad e Infancia, de la Facultad de Medicina de la Universidad Nacional de Tucumán, Tucumán, Argentina Servicio de Endocrinología Pediátrica del Hospital del Niño Jesús, Tucumán, ArgentinaSearch for more papers by this authorSilvia Pintos de Pons, Silvia Pintos de Pons Centro de Genética Médica, Orientación Genética, Departamento Biomédico, Universidad Nacional de Tucumán, Tucumán, ArgentinaSearch for more papers by this authorMaria Luisa Martínez-Frías, Maria Luisa Martínez-Frías Centro de Investigación Sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, SpainSearch for more papers by this authorSolange Heuertz, Solange Heuertz Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, FranceSearch for more papers by this authorValerie Cormier-Daire, Valerie Cormier-Daire Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, Paris, FranceSearch for more papers by this authorDaniel H. Cohn, Corresponding Author Daniel H. Cohn [email protected] Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, California Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CaliforniaMedical Genetics, SSB-3, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles, CA 90048.Search for more papers by this author First published: 11 August 2005 https://doi.org/10.1002/ajmg.a.30912Citations: 6Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. 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