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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Wade, Emma M; Jenkins, Zandra A; Daniel, Philip B; Morgan, Tim; Addor, Marie C; Adés, Lesley C; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C M; Kim, Chong A; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E; Wieczorek, Dagmar; Wilson, Louise C; Markie, David M; Robertson, Stephen P.
Afiliación
  • Wade EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Jenkins ZA; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Daniel PB; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Morgan T; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Addor MC; Service de Génétique Médicale Maternité, CHUV Lausanne, Switzerland.
  • Adés LC; Discipline of Pediatrics and Child Health, University of Sydney and Department of Clinical Genetics, The Children's Hospital,, Westmead, Sydney, Australia.
  • Bertola D; Genetics Unity, Instituto da Criança, Hospital das Clinicas da Faculdade de Medicina, São Paulo, Brazil.
  • Bohring A; Institut fur Humangenetik, Universitatsklinikum Munster, Germany.
  • Carter E; Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, New York, New York.
  • Cho TJ; Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • de Geus CM; Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.
  • Duba HC; Zentrum Medizinische Genetik Linz, Kepler Universitätsklinikum Medical Campus IV, Krankenhausstrasse, Linz, Austria.
  • Fletcher E; SE Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom.
  • Hadzsiev K; Department of Medical Genetics, University of Pécs, Pécs, Hungary.
  • Hennekam RCM; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Kim CA; Genetics Unity, Instituto da Criança, Hospital das Clinicas da Faculdade de Medicina, São Paulo, Brazil.
  • Krakow D; David Geffen School of Medicine, UCLA, Los Angeles, California.
  • Morava E; Department of Pediatrics, University Hospital Leuven, Leuven, Belgium.
  • Neuhann T; MGZ-Medical Genetics Center, Munich, Germany.
  • Sillence D; Department of Genetic Medicine, Westmead Hospital, and Discipline of Genetic Medicine, Sydney Medical School, Sydney, Australia.
  • Superti-Furga A; Department of Pediatrics, CHUV, University of Lausanne, Switzerland.
  • Veenstra-Knol HE; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany.
  • Wilson LC; Clinical Genetics Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
  • Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Am J Med Genet A ; 173(7): 1739-1746, 2017 Jul.
Article en En | MEDLINE | ID: mdl-28498505
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Nueva Zelanda
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Nueva Zelanda