A diagnosis of Noonan syndrome through routine whole genome sequencing in a child with an intracranial nongerminomatous germ cell tumor.

Autor: Mahmood S; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; University of Cambridge School of Clinical Medicine, Cambridge, UK., Leiter SM; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Paediatrics, University of Cambridge, Cambridge, UK.; Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK., Phyu P; Department of Radiology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Craven C; Department of Neurosurgery, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Horan G; Department of Radiation Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Gains J; Department of Radiation Oncology, Proton Beam Therapy Centre, University College London Hospital, London, UK., Briggs M; Department of Neuropathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Blanco E; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Behjati S; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Wellcome Sanger Institute, Hinxton, Cambridgeshire, UK., Watkins J; East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Tadross JA; East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Medical Research Council Metabolic Diseases Unit, Institute of Metabolic Science Metabolic Research Laboratories, University of Cambridge, Cambridge, UK., Roberts T; East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Trotman J; East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Tarpey P; East Genomic Laboratory Hub (GLH) Genetics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Armstrong R; Department of Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Murray MJ; Department of Paediatric Haematology and Oncology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Pathology, University of Cambridge, Cambridge, UK.
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Dec; Vol. 71 (12), pp. e31368. Date of Electronic Publication: 2024 Oct 08.
DOI: 10.1002/pbc.31368
Databáze: MEDLINE