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Characterization of PAX9 variant P20L identified in a Japanese family with tooth agenesis
Transcription factors PAX9 and MSX1 play crucial roles in the development of permanent teeth at the bud stage, and their loss-of-function variants have been associated with congenital tooth agenesis. We sequenced the coding regions of the PAX9 and MSX1 genes from nine patients with non-syndromic too...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638407/ https://www.ncbi.nlm.nih.gov/pubmed/29023497 http://dx.doi.org/10.1371/journal.pone.0186260 |