Article
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.
The Journal of clinical endocrinology and metabolism - 1 Feb 2018
van der Tuin Karin, Mensenkamp Arjen R, Tops Carli M J, Corssmit Eleonora P M, Dinjens Winand N, van de Horst-Schrivers Anouk N A, Jansen Jeroen C, de Jong Mirjam M, Kunst Henricus P M, Kusters Benno, Leter Edward M, Morreau Hans, van Nesselrooij Bernadette M P, Oldenburg Rogier A, Spruijt Liesbeth, Hes Frederik J, Timmers Henri J L M
Abstract excerpt
Context: Paraganglioma (PGL) has the highest degree of heritability among human neoplasms. Current clinical understanding of germline SDHA mutation carriers is limited. Objective: To estimate the contribution of SDHA mutations in PGL and to assess clinical manifestations and age-related penetrance. Design: Nationwide retrospective cohort study. Setting: Tertiary referral centers in the Netherlands (multicenter)....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.