Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

Fred H. Menko, Rob B. Van Der Luijt, Irene A J De Valk, Arno W F T Toorians, Jan M. Sepers, Paul J. Van Diest, Cornelis J M Lips

Research output: Contribution to journalArticle

Abstract

A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.

Original languageEnglish (US)
Pages (from-to)393-397
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume87
Issue number1
DOIs
StatePublished - 2002
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

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    Menko, F. H., Van Der Luijt, R. B., De Valk, I. A. J., Toorians, A. W. F. T., Sepers, J. M., Van Diest, P. J., & Lips, C. J. M. (2002). Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. Journal of Clinical Endocrinology and Metabolism, 87(1), 393-397. https://doi.org/10.1210/jc.87.1.393