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Article

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta.

Head & face medicine - 31 Jan 2007

Santos Maria C L G, Hart P Suzanne, Ramaswami Mukundhan, Kanno Cláudia M, Hart Thomas C, Line Sergio R P

Abstract excerpt

Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17266769
DOI: 10.1186/1746-160X-3-8
PMCID: PMC1800839

Genes

AMBN
AMELX
ENAM
KLK4
MMP20

Provenance

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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