Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
|
| Materias: | |
| 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 |