Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis

• Main Authors: Jianfan Chen (Author), Xueqing Xu (Author), Song Chen (Author), Ting Lu (Author), Yingchun Zheng (Author), Zhongzhi Gan (Author), Zongrui Shen (Author), Shunfei Ma (Author), Duocai Wang (Author), Leyi Su (Author), Fei He (Author), Xuan Shang (Author), Huiyong Xu (Author), Dong Chen (Author), Leitao Zhang (Author), Fu Xiong (Author)
• Format: Book
• Published: Nature Publishing Group, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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, i...