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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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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | 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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