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Twin Res Hum Genet ; 16(6): 1112-6, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24103583

RESUMO

Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression.


Assuntos
Anodontia/genética , Fator de Transcrição MSX1/genética , Fator de Transcrição PAX9/genética , Polimorfismo Genético/genética , Dente/crescimento & desenvolvimento , Gêmeos Monozigóticos/genética , Criança , Primers do DNA/química , Primers do DNA/genética , Pai , Feminino , Humanos , Masculino , Mães , Dente/patologia
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