[CITATION][C] Granular cell tumor in a PHTS patient with a novel germline PTEN mutation

C Marchese, M Montera, M Torrini… - American Journal of …, 2003 - Wiley Online Library
C Marchese, M Montera, M Torrini, M Forni, F Goldoni, L Locatelli, C Mareni
American Journal of Medical Genetics Part A, 2003Wiley Online Library
The autosomal dominant inherited syndromes known as Cowden syndrome (CS, MIM
158350) and Bannayan-Ruvalcaba-Riley syndrome (BRR, MIM 153480) share clinical
characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous
lesions, and increased risk of developing neoplasms [Eng and Ji, 1998]. Recently, CS and
BBR have been indicated as PTEN hamartoma tumor syndrome (PHTS)[Marsh et al., 1999].
The autosomal dominant inherited syndromes known as Cowden syndrome (CS, MIM 158350) and Bannayan-Ruvalcaba-Riley syndrome (BRR, MIM 153480) share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms [Eng and Ji, 1998]. Recently, CS and BBR have been indicated as PTEN hamartoma tumor syndrome (PHTS)[Marsh et al., 1999].
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