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Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.
Taeubner, Julia; Wimmer, Katharina; Muleris, Martine; Lascols, Olivier; Colas, Chrystelle; Fauth, Christine; Brozou, Triantafyllia; Felsberg, Joerg; Riemer, Jasmin; Gombert, Michael; Ginzel, Sebastian; Hoell, Jessica I; Borkhardt, Arndt; Kuhlen, Michaela.
Affiliation
  • Taeubner J; Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Wimmer K; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Muleris M; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Centre de Recherche Saint-Antoine (CRSA), F75012, Paris, France.
  • Lascols O; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Centre de Recherche Saint-Antoine (CRSA), F75012, Paris, France.
  • Colas C; Department of molecular biology and genetics, AP-HP, Saint-Antoine Hospital, Paris, France.
  • Fauth C; Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Centre de Recherche Saint-Antoine (CRSA), F75012, Paris, France.
  • Brozou T; Department of genetics, AP-HP, Pitié Salpétrière Hospital, Paris, France.
  • Felsberg J; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Riemer J; Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Gombert M; Department of Neuropathology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Ginzel S; Institute of Pathology, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Hoell JI; Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Borkhardt A; Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
  • Kuhlen M; Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.
Eur J Hum Genet ; 26(3): 440-444, 2018 03.
Article in En | MEDLINE | ID: mdl-29302048
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Cerebellar Neoplasms / Genetic Testing / DNA-Binding Proteins / MutS Homolog 2 Protein / Medulloblastoma Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Cerebellar Neoplasms / Genetic Testing / DNA-Binding Proteins / MutS Homolog 2 Protein / Medulloblastoma Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Germany