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Diagnostic yield an...
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors : a nationwide, prospective Swedish study
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- Tesi, Bianca (författare)
- Karolinska Institute,Karolinska University Hospital
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- Lagerstedt Robinson, Kristina (författare)
- Karolinska Institute,Karolinska University Hospital
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- Abel, Frida (författare)
- University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital
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visa fler...
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- Díaz de Ståhl, Teresita (författare)
- Karolinska Institute,Karolinska University Hospital
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- Orrsjö, Sara (författare)
- University of Gothenburg,Sahlgrenska Academy,Sahlgrenska University Hospital
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- Poluha, Anna (författare)
- Uppsala University,Uppsala universitet,Institutionen för immunologi, genetik och patologi,Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden,Uppsala Univ Hosp, Sweden; Uppsala Univ, Sweden
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- Hellberg, Maria (författare)
- Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Wessman, Sandra (författare)
- Karolinska Institute,Karolinska University Hospital
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- Samuelsson, Sofie (författare)
- Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Frisk, Tony (författare)
- Karolinska Institute,Karolinska University Hospital
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- Vogt, Hartmut (författare)
- Linköping University,Linköpings universitet,Institutionen för biomedicinska och kliniska vetenskaper,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus,Crown Princess Victoria Children's Hospital, Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Henning, Karin (författare)
- Karolinska Institute,Karolinska University Hospital
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- Sabel, Magnus (författare)
- University of Gothenburg,Sahlgrenska University Hospital,Queen Silvia Children’s Hospital,Sahlgrenska Academy
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- Ek, Torben (författare)
- University of Gothenburg,Sahlgrenska Academy,Queen Silvia Children’s Hospital,Sahlgrenska University Hospital
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- Pal, Niklas (författare)
- Karolinska Inst, Sweden,Department of Pediatric Hematology and Oncology, Karolinska University Hospital, Stockholm, Sweden
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- Nyman, Per (författare)
- Linköping University,Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, H.K.H. Kronprinsessan Victorias barn- och ungdomssjukhus,Karolinska Univ Hosp, Sweden,Department of Health, Medicine and Caring Sciences, Linköping University, Linköping, Sweden; Centre for Medical Image Science and Visualization (CMIV), Linköping University, Linköping, Sweden
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- Giraud, Géraldine (författare)
- Uppsala University,Uppsala universitet,Science for Life Laboratory, SciLifeLab,Neuroonkologi och neurodegeneration,Barnonkologisk forskning - särskilt fokus på komplikationer,Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden,Uppsala Univ, Sweden
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- Wille, Joakim (författare)
- Skane Univ Hosp, Sweden,Childhood Cancer Center, Skåne University Hospital, Lund, Sweden
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- Pronk, Cornelis Jan (författare)
- Lund University,Lunds universitet,Avdelningen för molekylär hematologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,WCMM- Wallenberg center för molekylär medicinsk forskning,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Molecular Hematology (DMH),Department of Laboratory Medicine,Faculty of Medicine,WCMM-Wallenberg Centre for Molecular Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Skåne University Hospital
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- Norén-Nyström, Ulrika (författare)
- Umeå University,Umeå universitet,Pediatrik
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- Borssén, Magnus (författare)
- Umeå University,Umeå universitet,Pediatrik
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- Fili, Maria (författare)
- Karolinska Institute,St Erik Eye Hospital
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- Stålhammar, Gustav (författare)
- Karolinska Institute,St Erik Eye Hospital
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- Herold, Nikolas (författare)
- Karolinska Institute,Karolinska University Hospital
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- Tettamanti, Giorgio (författare)
- Karolinska Institute
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- Maya-Gonzalez, Carolina (författare)
- Karolinska Institute
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- Arvidsson, Linda (författare)
- Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Rosén, Anna, 1975- (författare)
- Umeå University,Umeå universitet,Onkologi
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- Ekholm, Katja (författare)
- Karolinska Institute,Karolinska University Hospital
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- Kuchinskaya, Ekaterina (författare)
- Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden
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- Hallbeck, Anna-Lotta (författare)
- Linköping University,Linköpings universitet,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Nordling, Margareta (författare)
- Linköping University,Linköpings universitet,Avdelningen för cell- och neurobiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden; Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden
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- Palmebäck, Pia (författare)
- Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden
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- Kogner, Per (författare)
- Karolinska Institute,Karolinska University Hospital
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- Kanter Smoler, Gunilla (författare)
- Sahlgrens Univ Hosp, Sweden,Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Lähteenmäki, Päivi (författare)
- Karolinska Institute
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- Fransson, Susanne (författare)
- University of Gothenburg,Sahlgrenska University Hospital,Sahlgrenska Academy
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- Martinsson, Tommy (författare)
- Univ Gothenburg, Sweden,Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
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- Shamik, Alia (författare)
- Karolinska Institute,Karolinska University Hospital
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- Mertens, Fredrik (författare)
- Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Rosenquist, Richard (författare)
- Karolinska Institute,Karolinska University Hospital
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- Wirta, Valtteri (författare)
- KTH Royal Institute of Technology,Karolinska Institute,Karolinska University Hospital
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- Tham, Emma (författare)
- Karolinska Institute,Karolinska University Hospital
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- Grillner, Pernilla (författare)
- Karolinska Institute,Karolinska University Hospital
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- Sandgren, Johanna (författare)
- Karolinska Institute,Karolinska University Hospital
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- Ljungman, Gustaf, 1958- (författare)
- Uppsala University,Uppsala universitet,Barnonkologisk forskning - särskilt fokus på komplikationer,Pediatric Oncology, Uppsala University Children's Hospital, Uppsala, Sweden; Department of Women's and Children's Health, Uppsala University, Sweden,Uppsala Univ, Sweden
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- Gisselsson, David (författare)
- Off Med Serv, Sweden,Department of Clinical Genetics, Pathology and Molecular Diagnostics, Office of Medical Services, Region Skåne, Lund, Sweden
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- Taylan, Fulya (författare)
- Karolinska Institute,Karolinska University Hospital
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- Nordgren, Ann (författare)
- Karolinska Institute,Karolinska University Hospital,Sahlgrenska University Hospital,Sahlgrenska Academy
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(creator_code:org_t)
- Elsevier, 2024
- 2024
- Engelska.
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Ingår i: The Lancet Regional Health. - : Elsevier. - 2666-7762. ; 39
- Relaterad länk:
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https://doi.org/10.1...
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https://uu.diva-port... (primary) (Raw object)
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://urn.kb.se/re...
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https://lup.lub.lu.s...
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Abstract
Ämnesord
Stäng
- BackgroundChildhood cancer predisposition (ChiCaP) syndromes are increasingly recognized as contributing factors to childhood cancer development. Yet, due to variable availability of germline testing, many children with ChiCaP might go undetected today. We report results from the nationwide and prospective ChiCaP study that investigated diagnostic yield and clinical impact of integrating germline whole-genome sequencing (gWGS) with tumor sequencing and systematic phenotyping in children with solid tumors.MethodsgWGS was performed in 309 children at diagnosis of CNS (n = 123, 40%) or extracranial (n = 186, 60%) solid tumors and analyzed for disease-causing variants in 189 known cancer predisposing genes. Tumor sequencing data were available for 74% (227/309) of patients. In addition, a standardized clinical assessment for underlying predisposition was performed in 95% (293/309) of patients.FindingsThe prevalence of ChiCaP diagnoses was 11% (35/309), of which 69% (24/35) were unknown at inclusion (diagnostic yield 8%, 24/298). A second-hit and/or relevant mutational signature was observed in 19/21 (90%) tumors with informative data. ChiCaP diagnoses were more prevalent among patients with retinoblastomas (50%, 6/12) and high-grade astrocytomas (37%, 6/16), and in those with non-cancer related features (23%, 20/88), and ≥2 positive ChiCaP criteria (28%, 22/79). ChiCaP diagnoses were autosomal dominant in 80% (28/35) of patients, yet confirmed de novo in 64% (18/28). The 35 ChiCaP findings resulted in tailored surveillance (86%, 30/35) and treatment recommendations (31%, 11/35).InterpretationOverall, our results demonstrate that systematic phenotyping, combined with genomics-based diagnostics of ChiCaP in children with solid tumors is feasible in large-scale clinical practice and critically guides personalized care in a sizable proportion of patients.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
Nyckelord
- Childhood cancer predisposition
- Whole-genome sequencing
- Germline variants
- Somatic mutations
- Childhood cancer predisposition
- Germline variants
- Somatic mutations
- Whole-genome sequencing
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Tesi, Bianca
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Lagerstedt Robin ...
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Abel, Frida
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Díaz de Ståhl, T ...
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Orrsjö, Sara
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Poluha, Anna
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visa fler...
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Hellberg, Maria
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Wessman, Sandra
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Samuelsson, Sofi ...
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Frisk, Tony
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Vogt, Hartmut
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Henning, Karin
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Sabel, Magnus
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Ek, Torben
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Pal, Niklas
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Nyman, Per
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Giraud, Géraldin ...
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Wille, Joakim
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Pronk, Cornelis ...
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Norén-Nyström, U ...
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Borssén, Magnus
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Fili, Maria
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Stålhammar, Gust ...
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Herold, Nikolas
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Tettamanti, Gior ...
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Maya-Gonzalez, C ...
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Arvidsson, Linda
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Rosén, Anna, 197 ...
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Ekholm, Katja
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Kuchinskaya, Eka ...
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Hallbeck, Anna-L ...
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Nordling, Margar ...
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Palmebäck, Pia
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Kogner, Per
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Kanter Smoler, G ...
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Lähteenmäki, Päi ...
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Fransson, Susann ...
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Martinsson, Tomm ...
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Shamik, Alia
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Mertens, Fredrik
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Rosenquist, Rich ...
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Wirta, Valtteri
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Tham, Emma
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Grillner, Pernil ...
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Sandgren, Johann ...
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Ljungman, Gustaf ...
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Gisselsson, Davi ...
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Taylan, Fulya
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Nordgren, Ann
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Cancer och onkol ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Pediatrik
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The Lancet Regio ...
- Av lärosätet
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Uppsala universitet
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Linköpings universitet
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Umeå universitet
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Lunds universitet