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Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.

Molecular genetics & genomic medicine - 1 Jan 2024

Zhou Zheng, Zhang Ye, Zhu Lijing, Cui Yajuan, Gao Yan, Zhou Chuan-Xiang

Abstract excerpt

BACKGROUND: Familial gigantiform cementoma (FGC) is a rare tumor characterized by the early onset of multi-quadrant fibro-osseous lesions in the jaws, causing severe maxillofacial deformities. Its clinicopathological features overlap with those of other benign fibro-osseous lesions. FGC eventually exhibits progressively rapid growth, but no suspected causative gene has been identified. METHODS: In this study,...

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PMID: 37649308
DOI: 10.1002/mgg3.2277
PMCID: PMC10767285

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