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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Bibliographic Details
Main Authors: Akiko Murakami, Shinji Yasuhira, Hisayo Mayama, Hiroyuki Miura, Chihaya Maesawa, Kazuro Satoh
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC5638407?pdf=render