Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors.
复制标题
综合征性和非综合征性角化囊性牙源性肿瘤中已知和新型 PTCH 突变的鉴定。
DOI：
10.4248/ijos.08013
复制
发表时间：
2009-03
影响因子：
14.9
通讯作者：
Li TJ
中科院分区：
文献类型：
--
作者：
Pan S;Xu LL;Sun LS;Li TJ
To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. 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, c.1012 C>T, c.403C>T). Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.
登录
查看更多内容
影响因子：
7.6
作者：
Barreto, DC;Gomez, RS;De Marco, L
通讯作者：
De Marco, L
中国痣样基底细胞癌综合征患者的 PTCH 种系突变。
影响因子：
3.8
作者：
Li, T-J;Yuan, J-W;Zhao, H-S
通讯作者：
Zhao, H-S
影响因子：
8.8
作者：
通讯作者：
--
影响因子：
7.6
作者：
Gu, X. -M.;Zhao, H. -S.;Li, T. -J.
通讯作者：
Li, T. -J.
影响因子：
3.9
作者：
Calzada-Wack, Julia;Schnitzbauer, Udo;Hahn, Heidi
通讯作者：
Hahn, Heidi