Your browser doesn't support javascript.
loading
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Wambach, Jennifer A; Stettner, Georg M; Haack, Tobias B; Writzl, Karin; Skofljanec, Andreja; Maver, Ales; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M; Grange, Dorothy K; Wilichowski, Ekkehard; Troxell, Robin; Collins, James; Warner, Barbara B; Schmidt, Robert E; Pestronk, Alan; Cole, F Sessions; Steinfeld, Robert.
Afiliación
  • Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
  • Stettner GM; Department of Pediatric Neurology, University of Göttingen, Göttingen, Germany.
  • Haack TB; Division of Pediatric Neurology, University Children's Hospital Zürich, Zürich, Switzerland.
  • Writzl K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Skofljanec A; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Maver A; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Munell F; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Ossowski S; Department of Paediatric Intensive Care, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Bosio M; Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
  • Wegner DJ; Neuromuscular Unit, Pediatric Neurology Department, Vall d'Hebron University Hospital', Vall d'Hebron Research Institute, Barcelona, Spain.
  • Shinawi M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Baldridge D; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Alhaddad B; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Strom TM; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
  • Grange DK; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
  • Wilichowski E; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
  • Troxell R; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
  • Collins J; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
  • Warner BB; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Schmidt RE; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Pestronk A; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
  • Steinfeld R; Department of Pediatric Neurology, University of Göttingen, Göttingen, Germany.
Hum Mutat ; 38(11): 1477-1484, 2017 11.
Article en En | MEDLINE | ID: mdl-28726266
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Artrogriposis / Genes Letales / Proteínas de la Membrana / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Artrogriposis / Genes Letales / Proteínas de la Membrana / Mutación / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article