Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome

Case report: A novel PTCH1 frameshift mutation leading to nevoid basal cell carcinoma syndrome

A patient presenting with several basal cell carcinomas, pigmented nevi, and developmental defects was diagnosed with nevoid basal cell carcinoma syndrome. Gene panel sequencing and Sanger sequencing were used to identify a novel heterozygous frameshift mutation, c.1312dupA:p.Ser438Lysfs, in exon 9...

Full description

Bibliographic Details
Main Authors: Xiaoqing Lang, Ting Wang, Shuping Guo, Yao Dang, Yingjie Zhang, Hongye Liu, Hongxia He, Li Li, Huajie Yuan, Ting He, Qiong Wang, Shiyu Qin, Runping Cheng, Xingquan Yan, Hongzhou Cui
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Medicine
Subjects:
novel
frameshift mutation
nevoid basal cell carcinoma syndrome
PTCH1
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2024.1327505/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2024.1327505/full

Similar Items