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Article

Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice.

Bone - 1 Jan 2023

Zheng Xueqing, Huang Wushuang, He Zhenru, Li Yang, Li Shiyu, Song Yaling

Abstract excerpt

Truncation mutations in family with sequence similarity, member H (FAM83H) gene are considered the main cause of autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI); however, its pathogenic mechanism in amelogenesis remains poorly characterized. This study aimed to investigate the effects of truncated FAM83H on developmental defects in enamel. CRISPR/Cas9 technology was used to develop a novel...

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Identifiers

PMID: 36272714
DOI: 10.1016/j.bone.2022.116595

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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