Article
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.
Archives of oral biology - 1 Aug 2003
Hart P S, Michalec M D, Seow W K, Hart T C, Wright J T
Abstract excerpt
The amelogenesis imperfectas (AI) are a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Although X-linked, autosomal dominant and autosomal recessive forms of AI have been clinically characterized, only two genes (AMELX and ENAM) have been associated with AI. To date, three enamelin (ENAM) mutations have been identified. These mutations cause phenotypically...
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