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      Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.

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          Abstract

          Pathogenic germline variants in subunits of succinate dehydrogenase (SDHB, SDHC and SDHD) are broadly associated with disease subtypes of phaeochromocytoma-paraganglioma (PPGL) syndrome. Our objective was to investigate the role of variant type (ie, missense vs truncating) in determining tumour phenotype.

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          Author and article information

          Journal
          J. Med. Genet.
          Journal of medical genetics
          BMJ
          1468-6244
          0022-2593
          Feb 2020
          : 57
          : 2
          Affiliations
          [1 ] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands J.P.L.Bayley@lumc.nl.
          [2 ] Department of Medicine II, University of Freiburg Faculty of Medicine, Freiburg, Germany.
          [3 ] Department of Otorhinolaryngology - Head & Neck Surgery, Free University Medical Center, Amsterdam, The Netherlands.
          [4 ] Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands.
          [5 ] Department of Otorhinolaryngology, Leiden University Medical Center, Leiden, The Netherlands.
          [6 ] Department of Biochemistry and Molecular Biology, The University of Melbourne Bio21 Molecular Science and Biotechnology Institute, Parkville, Victoria, Australia.
          [7 ] Instituto René Rachou, Fundacao Oswaldo Cruz, Belo Horizonte, Brazil.
          [8 ] Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
          [9 ] Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
          [10 ] Section for Preventive Medicine, Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.
          Article
          jmedgenet-2019-106214
          10.1136/jmedgenet-2019-106214
          31492822
          356ad657-e853-4e83-a8dc-4c706a4cbed5
          History

          genotype-phenotype,pheochromocytoma,paraganglioma, SDHC , SDHB , SDHD ,Succinate dehydrogenase

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