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WNT10A variants isolated from Japanese patients with congenital tooth agenesis.
Machida J, Goto H, Tatematsu T, Shibata A, Miyachi H, Takahashi K, Izumi H, Nakayama A, Shimozato K, Tokita Y. Machida J, et al. Among authors: miyachi h. Hum Genome Var. 2017 Nov 9;4:17047. doi: 10.1038/hgv.2017.47. eCollection 2017. Hum Genome Var. 2017. PMID: 29367877 Free PMC article.
An aberrant splice acceptor site due to a novel intronic nucleotide substitution in MSX1 gene is the cause of congenital tooth agenesis in a Japanese family.
Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, Tokita Y. Tatematsu T, et al. Among authors: miyachi h. PLoS One. 2015 Jun 1;10(6):e0128227. doi: 10.1371/journal.pone.0128227. eCollection 2015. PLoS One. 2015. PMID: 26030286 Free PMC article.
A novel PITX2 mutation causing iris hypoplasia.
Kimura M, Tokita Y, Machida J, Shibata A, Tatematsu T, Tsurusaki Y, Miyake N, Saitsu H, Miyachi H, Shimozato K, Matsumoto N, Nakashima M. Kimura M, et al. Among authors: miyachi h. Hum Genome Var. 2014 Jul 31;1:14005. doi: 10.1038/hgv.2014.5. eCollection 2014. Hum Genome Var. 2014. PMID: 27081499 Free PMC article.
665 results