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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, Atypical MEN Type 2B Associated with Two Germline RET Mutations on the Same Allele Not Involving Codon 918, The Journal of Clinical Endocrinology & Metabolism, Volume 87, Issue 1, 1 January 2002, Pages 393–397, https://doi.org/10.1210/jcem.87.1.8136
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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.