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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...

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Detalles Bibliográficos
Autores principales: Murakami, Akiko, Yasuhira, Shinji, Mayama, Hisayo, Miura, Hiroyuki, Maesawa, Chihaya, Satoh, Kazuro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
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