Article
Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis.
International journal of oral science - 26 Sept 2023
Chen Jianfan, Xu Xueqing, Chen Song, Lu Ting, Zheng Yingchun, Gan Zhongzhi, Shen Zongrui, Ma Shunfei, Wang Duocai, Su Leyi, He Fei, Shang Xuan, Xu Huiyong, Chen Dong, Zhang Leitao, Xiong Fu
Abstract excerpt
Hereditary gingival fibromatosis (HGF) is a rare inherited condition with fibromatoid hyperplasia of the gingival tissue that exhibits great genetic heterogeneity. Five distinct loci related to non-syndromic HGF have been identified; however, only two disease-causing genes, SOS1 and REST, inducing HGF have been identified at two loci, GINGF1 and GINGF5, respectively. Here, based on a family pedigree with 26...
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