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Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development-a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis.
Chhabda, Sahil; Sudhakar, Sniya; Mankad, Kshitij; Jorgensen, Mette; Carceller, Fernando; Jacques, Thomas S; Merve, Ashirwad; Aizpurua, Miren; Chalker, Jane; Garimberti, Elisa; D'Arco, Felice.
  • Chhabda S; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK. schhabda@nhs.net.
  • Sudhakar S; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • Mankad K; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • Jorgensen M; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • Carceller F; The Royal Marsden Hospital, Downs Road, Sutton, SM2 5PT, UK.
  • Jacques TS; The Division of Clinical Studies, The Institute of Cancer Research, 15 Cotswold Road, Sutton, SM2 5NG, UK.
  • Merve A; Paediatric Neuropathology, UCL GOS Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.
  • Aizpurua M; Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • Chalker J; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • Garimberti E; Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
  • D'Arco F; SIHMDS-AG Laboratory, London North Genomic Laboratory Hub, Level 2, Camelia Botnar Laboratories, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.
Childs Nerv Syst ; 37(7): 2375-2379, 2021 07.
Article en En | MEDLINE | ID: mdl-33247381
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndromes Neoplásicos Hereditarios / Neoplasias Encefálicas / Neoplasias Colorrectales / Malformaciones del Desarrollo Cortical / Glioma Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Adolescent / Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndromes Neoplásicos Hereditarios / Neoplasias Encefálicas / Neoplasias Colorrectales / Malformaciones del Desarrollo Cortical / Glioma Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Adolescent / Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article