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Article

Novel FAM83H mutations in patients with amelogenesis imperfecta.

Scientific reports - 20 Jul 2017

Xin Wang, Wenjun Wang, Man Qin, Yuming Zhao

Abstract excerpt

Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to identify genetic mutations in four Chinese families with hypocalcified AI. We performed mutation analysis by sequencing the...

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PMID: 28729668
DOI: 10.1038/s41598-017-05208-0
PMCID: PMC5519741

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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