Article
A Novel Mutation of PTCHD3 Identified in a Chinese Family with Basal Cell Nevus Syndrome-associated Odontogenic Keratocysts.
The Chinese journal of dental research - 18 Mar 2026
Zhou Si Yi, Zhu Zi Yu, Lu Ke Jie, Kong Jian Lu, Gu Tian Yi, Siow Lixuen, Qian Ying, Zhang Chao Ying, Wang Si Yu, Hong Takseng, Gong Jia Xing, Zhu Hui Yong, Yu Meng Fei, Wang Hui Ming
Abstract excerpt
OBJECTIVE: To elucidate the genetic aetiology of basal cell nevus syndrome (BCNS) within a Chinese cohort featuring an affected family. METHODS: The patient's and their parents' peripheral venous blood was collected for high-throughput exon sequencing. Tools such as Mutation Taster2 and SIFT were used to predict mutation harmfulness and obtain the most suspected pathogenic mutation. GeneMANIA was employed to...
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