Article
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
American journal of medical genetics. Part A - 1 Nov 2013
Piccione Maria, Fragapane Tiziana, Antona Vincenzo, Giachino Daniela, Cupido Francesco, Corsello Giovanni
Abstract excerpt
PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ-line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect...
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