TY - JOUR
T1 - Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918
AU - Menko, Fred H.
AU - Van Der Luijt, Rob B.
AU - De Valk, Irene A.J.
AU - Toorians, Arno W.F.T.
AU - Sepers, Jan M.
AU - van Diest, Paulus Joannes
AU - Lips, Cornelis J.M.
PY - 2002
Y1 - 2002
N2 - 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.
AB - 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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U2 - 10.1210/jcem.87.1.8136
DO - 10.1210/jcem.87.1.8136
M3 - Review article
C2 - 11788682
AN - SCOPUS:0036148536
SN - 0021-972X
VL - 87
SP - 393
EP - 397
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
IS - 1
ER -