Publications by authors named "Maria Chiara Fabiano"
Objective: We report the case of a female patient with multiple endocrine neoplasia type 2A (MEN2A) who was found to have a double mutation in the RET (rearranged during transfection) proto-oncogene.
Methods: RET mutational analysis was performed by Sanger DNA sequencing.
Results: The proband was a compound heterozygote for the RET germline mutations Val648Ile and Val804Leu on exons 11 and 14, respectively.