Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors-Reference-Cited by-同舟云学术

Germline Platelet-derived growth factor receptor beta p.R987W pathogenic variant in 2 children with brain tumors

Published:2023-01-01 Issue:1 Volume:5 Page:
ISSN:2632-2498
Container-title:Neuro-Oncology Advances
language:en
Short-container-title:

Author:

Han HyeRim¹²^ORCID,Renzi Samuele³,Larouche Valerie³,Faury Damien⁴,Langlois Sylvie⁵,Sinnett Daniel⁵⁶^ORCID,Gomez Andrea⁷,Karamchandani Jason⁷,Crevier Louis⁸,Foulkes William D²⁹¹⁰^ORCID,Jabado Nada²⁴

Affiliation:

1. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat , Barcelona , Spain

2. Department of Human Genetics, McGill University Faculty of Medicine , Montreal, Québec , Canada

3. Department of Pediatric and Division of Hemato-Oncology, CHU de Québec-Université-Laval , Québec , Canada

4. Department of Pediatrics, McGill University and McGill University Heath Centre Research Institute , Montreal, Quebec , Canada

5. Division of Hematology-Oncology, Research Center, Centre Hospitalier Universitaire Sainte-Justine , Montréal, Québec , Canada

6. Department of Pediatrics, University of Montreal, Faculty of Medicine , Montreal, Quebec , Canada

7. Department of Pathology, McGill University , Montreal, Quebec , Canada

8. Department of Surgery, CHU de Québec-Université-Laval , Québec , Canada

9. Gerald Bronfman Department of Oncology, McGill University , Montreal, Quebec , Canada

10. Department of Human Genetics, McGill University and McGill University Heath Centre Research Institute , Montreal, Quebec , Canada

Funder

Acció instrumental de formació de científics i tecnòlegs

Canadian Institutes of Health Research

Publisher

Oxford University Press (OUP)

Subject

Surgery,Oncology,Neurology (clinical)

Link

https://academic.oup.com/noa/advance-article-pdf/doi/10.1093/noajnl/vdad029/49897741/vdad029.pdf

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3. A recurrent PDGFRB mutation causes familial infantile myofibromatosis;Cheung;Am J Hum Genet.,2013

4. Primary familial brain calcifications: Genetic and clinical update;Westenberger;Curr Opin Neurol.,2019

5. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification;Nicolas;Neurology.,2013