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Article

Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.

International journal of oral science - 1 Mar 2009

Pan Shuang, Xu Li-li, Sun Li-sha, Li Tie-jun

Abstract excerpt

AIM: To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. METHODOLOGY: Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. RESULTS: Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup,...

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PMID: 20690502
DOI: 10.4248/ijos.08013
PMCID: PMC3735790

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