Article
Distinct non-clock-like signatures of the basal cell carcinomas from three sisters with a lethal Gorlin-Goltz syndrome.
BMC medical genomics - 5 Aug 2022
Ye Lihua, Wang Li, Peng Kexin, Fang Ou, Tian Zhen, Li Caihua, Fu Xiaopeng, Chen Qingdong, Chen Jia, Luan Jing, Zhang Zhenghua, Zhang Qiaoan
Abstract excerpt
BACKGROUND: Gorlin-Goltz syndrome (GS) is an inherited disease characterized by predisposition to basal cell carcinomas (BCCs) and various developmental defects, whose numerous disease-causing PTCH1 mutations have been identified in the hedgehog (Hh) signaling pathway. METHODS: In this study, whole exome sequencing was used to screen for both somatic and germline deleterious mutations in three sisters with a...
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