Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta
نویسندگان
چکیده
منابع مشابه
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant...
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BACKGROUND Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect. METHODS Geneomic DNA was isolated from five Iranian families with 22 members affec...
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متن کاملAmelogenesis imperfecta
Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. The prevalence varies from 1:700 to 1:14,000, according to the populations studied. Th...
متن کاملAmelogenesis Imperfecta- A Review
NTRODUCTION Amelogenesis Imperfecta (AI) is a developmental disorder of genomic origin, associated with abnormal enamel formation. Although AI is considered as a single disease entity, it actually represents a group of heterogeneous conditions, with diverse structural defects of enamel resulting in a range of clinical phenotypes. 1 It is characterized by clinical and genetic heterogeneity in th...
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ژورنال
عنوان ژورنال: Journal of Dental Research
سال: 2009
ISSN: 0022-0345,1544-0591
DOI: 10.1177/0022034509333822