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
Autores principales: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Song, Ji-Soo, Hu, Jan C.-C., Simmer, James P., Kim, Jung-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996877/
https://www.ncbi.nlm.nih.gov/pubmed/33652941
http://dx.doi.org/10.3390/genes12030346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7996877/
https://www.ncbi.nlm.nih.gov/pubmed/33652941
http://dx.doi.org/10.3390/genes12030346

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