Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families
نویسندگان
چکیده
منابع مشابه
Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and...
متن کاملPhenotype-Genotype Correlations in Mouse Models of Amelogenesis Imperfecta Caused by Amelx and Enam Mutations
Mutations in human and in mouse orthologous genes Amelx and Enam result in a diverse range of enamel defects. In this study we aimed to investigate the phenotype-genotype correlation between the mutants and the wild-type controls in mouse models of amelogenesis imperfecta using novel measurement approaches. Ten hemi-mandibles and incisors were dissected from each group of Amelx(WT), Amelx(X/Y64...
متن کاملFAM83H 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...
متن کاملMutational analysis of candidate genes in 24 amelogenesis imperfecta families.
Amelogenesis imperfecta (AI) is a heterogeneous group of inherited defects in dental enamel formation. The malformed enamel can be unusually thin, soft, rough and stained. The strict definition of AI includes only those cases where enamel defects occur in the absence of other symptoms. Currently, there are seven candidate genes for AI: amelogenin, enamelin, ameloblastin, tuftelin, distal-less h...
متن کامل[Amelogenesis imperfecta].
Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta Braz Dent J 2016; 27(3): 359-362 Oral Health-Related Quality of Life Before and After Crown Therapy in Young Patients with Amelogenesis Imperfecta Health Qual Life Outcomes 2015; (13): 197 Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year Case Rep Dent (2015) Art ID 57916...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Cells Tissues Organs
سال: 2011
ISSN: 1422-6421,1422-6405
DOI: 10.1159/000324339