A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) is a heterogeneous group of rare genetic disorders affecting tooth enamel formation. Here we report an identification of a novel de novo missense mutation [c.817_818delinsAT, p.(Ala273Met)] in the SP6 gene, causing non-syndromic autosomal dominant AI. This is the second...

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Detalles Bibliográficos
Publicado en:Genes (Basel)
Main Authors: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Song, Ji-Soo, Hu, Jan C.-C., Simmer, James P., Kim, Jung-Wook
Formato: Artigo
Idioma:Inglês
Publicado: MDPI 2021
Assuntos:
Communication
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7996877/
https://ncbi.nlm.nih.gov/pubmed/33652941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12030346
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