Article
Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers.
European journal of human genetics : EJHG - 1 Sept 2018
Heesterman Berdine L, de Pont Lisa M H, van der Mey Andel Gl, Bayley Jean-Pierre, Corssmit Eleonora Pm, Hes Frederik J, Verbist Berit M, van Benthem Peter Paul G, Jansen Jeroen C
Abstract excerpt
Although it is well established that paternally transmitted germline variants in SDHD are associated with multifocal paragangliomas and lifelong follow-up is generally advised, the risk of metachronous lesions is presently unknown. In a large Dutch cohort of SDHD variant carriers, we studied the development of new paragangliomas, and the evolution of symptoms and cranial nerve impairment. Recurrent event analysis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.