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Article

Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.

Archives of oral biology - 1 Sept 2015

Urzúa Blanca, Martínez Carolina, Ortega-Pinto Ana, Adorno Daniela, Morales-Bozo Irene, Riadi Gonzalo, Jara Lilian, Plaza Anita, Lefimil Claudia, Lozano Carla, Reyes Monserrat

Abstract excerpt

OBJECTIVE: Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous inherited conditions, causing alterations in the structure of enamel and chemical composition of enamel matrix during development. The objective of this study was to compare the clinical, radiographic, histological and immunohistochemical phenotypes of subjects affected with hypocalcified AI from three Chilean families...

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PMID: 26142250
DOI: 10.1016/j.archoralbio.2015.06.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.PMID 26142250Read ↗

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