Article
Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.
The Journal of clinical endocrinology and metabolism - 1 Jan 2002
Menko Fred H, van der Luijt Rob B, de Valk Irene A J, Toorians Arno W F T, Sepers Jan M, van Diest Paul J, Lips Cornelis J M
Abstract excerpt
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.
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