The phenotype of SDHB germline mutation carriers: a nationwide study.

doi:10.1530/EJE-17-0074

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Article

The phenotype of SDHB germline mutation carriers: a nationwide study.

European journal of endocrinology - 1 Aug 2017

Niemeijer Nicolasine D, Rijken Johannes A, Eijkelenkamp Karin, van der Horst-Schrivers Anouk N A, Kerstens Michiel N, Tops Carli M J, van Berkel Anouk, Timmers Henri J L M, Kunst Henricus P M, Leemans C René, Bisschop Peter H, Dreijerink Koen M A, van Dooren Marieke F, Bayley Jean-Pierre, Pereira Alberto M, Jansen Jeroen C, Hes Frederik J, Hensen Erik F, Corssmit Eleonora P M

Abstract excerpt

OBJECTIVE: Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tumor and pituitary neoplasia). The aim of this study was to determine phenotypical characteristics of a large Dutch cohort of SDHB germline mutation carriers and...

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Identifiers

PMID: 28490599
DOI: 10.1530/EJE-17-0074

Genes

SDHB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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