Article
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Clinical endocrinology - 1 Jun 2013
Jafri Mariam, Whitworth James, Rattenberry Eleanor, Vialard Lindsey, Kilby Gail, Kumar Ajith V, Izatt Louise, Lalloo Fiona, Brennan Paul, Cook Jackie, Morrison Patrick J, Canham Natalie, Armstrong Ruth, Brewer Carole, Tomkins Susan, Donaldson Alan, Barwell Julian, Cole Trevor R, Atkinson A Brew, Aylwin Simon, Ball Steve G, Srirangalingam Umasuthan, Chew Shern L, Evans Dafydd Gareth R, Hodgson Shirley V, Irving Richard, Woodward Emma, Macdonald Fiona, Maher Eamonn R
Abstract excerpt
OBJECTIVES: Research studies have reported that about a third of individuals with phaeochromocytoma/paraganglioma (PPGL) have an inherited predisposition, although the frequency of specific mutations can vary between populations. We evaluated VHL, SDHB and SDHD mutation testing in cohorts of patients with non-syndromic PPGL and head and neck paraganglioma (HNPGL). DESIGN: Prospective, observational evaluation of...
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