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Endocrinology and Metabolism 87 4869 – 4871 . Astuti D Douglas F Lennard TW Aligianis IA Woodward ER Evans DG Eng C Latif F Maher ER 2001 Germline SDHD mutation in familial phaeochromocytoma . Lancet 357 1181 – 1182 . Averbuch SD Steakley
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. Journal of the American Medical Association 244 1236 – 1237 . ( doi:10.1001/jama.1980.03310110046029 ). Anderson RJ Lufkin EG Sizemore GW Carney JA Sheps SG Silliman YE 1981 Acromegaly and pituitary adenoma with phaeochromocytoma: a
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C Crespin M Nau V Khau Van Kien P Corvol P Plouin PF Jeunemaitre X 2003 Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas . Cancer Research 63 5615 – 5621 . Kimura N Takayanagi
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.1086/321282 ). Bayley JP Kunst HP Cascon A Sampietro ML Gaal J Korpershoek E Hinojar-Gutierrez A Timmers HJ Hoefsloot LH Hermsen MA 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma . Lancet. Oncology 11
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the development of phaeochromocytoma (PC) and PGL tumours over 15 years ago, SDHA was first associated with PGL only seven years ago ( Burnichon et al . 2010 ) and, more recently, with wild-type gastrointestinal stromal tumours (WT GIST) ( Evenepoel
Department of Medical Genetics, Department of Clinical Genetics, University of Cambridge, Cambridge, UK and
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Gentle D Martinsson T Kogner P Neumann HP Voutilainen R Eng C 2004 Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma . British Journal of Cancer 91 1835 – 1841 . ( doi:10.1038/sj
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score of 1 or 2. In only one out of six cases scoring 2 did one physician score the mass 2 while the other scored it 3. Discussion CT or MRI represent the first diagnostic step in the localization of phaeochromocytoma ( Van Gils et
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-Lepoutre C Perrier ND Nolting S Amar L Timmers HJLM Schwam ZG Estrera AL , et al. 2023 Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants . Lancet
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(s)/paraganglioma(s) . World Journal of Surgery 14 325 – 329 . van der Horst-Schrivers AN Kerstens MN Wolffenbuttel BH 2006 Preoperative pharmacological management of phaeochromocytoma . Netherlands Journal of Medicine 64 290 – 295 . Ilias I Shulkin B
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Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
Department of Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, INSERM, Endocrinology Unit, Reproductive and Adult Endocrinology Program, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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. 2003 ). Also there is a tendency for SDHD mutation carriers of truncating mutations to develop phaeochromocytoma in addition to HNPGL ( Astrom et al . 2003 , Benn et al . 2006 ). Biochemical diagnosis and imaging Suspicion of sPGL is usually