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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Kuechler, Alma; Kaiser, Frank J; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas.
Afiliación
  • Gangfuß A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.
  • Czech A; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany.
  • Hentschel A; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany.
  • Münchberg U; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany.
  • Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine, University of Cambridge, Cambridge, UK.
  • Töpf A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • O'Heir E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Lochmüller H; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Stehling F; Centro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  • Kiewert C; Children's Hospital of Eastern Ontario Research Institute; Division of Neurology, Department of Medicine, The Ottawa Hospital; and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.
  • Sickmann A; Children's Hospital, Department of Pneumology, University Hospital Essen, Essen, Germany.
  • Kuechler A; Children's Hospital, Department of Endocrinology, University Hospital Essen, Essen, Germany.
  • Kaiser FJ; Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V., Dortmund, Germany.
  • Kölbel H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Christiansen J; Essener Zentrum für seltene Erkrankungen (EZSE), University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Schara-Schmidt U; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.
  • Roos A; Essener Zentrum für seltene Erkrankungen (EZSE), University Hospital Essen, University Duisburg-Essen, Essen, Germany.
J Pathol ; 256(1): 93-107, 2022 01.
Article en En | MEDLINE | ID: mdl-34599609
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Músculo Esquelético / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: J Pathol Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Músculo Esquelético / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: J Pathol Año: 2022 Tipo del documento: Article País de afiliación: Alemania