Novel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia
Congenital tooth agenesis is a common anomaly in humans. We investigated the etiology of human tooth agenesis by exome analysis in Japanese patients, and found a previously undescribed heterozygous deletion (NM_002448.3(MSX1_v001):c.433_449del) in the first exon of the MSX1 gene. The deletion leads...
Main Authors: | Junya Adachi, Yoshihiko Aoki, Tadashi Tatematsu, Hiroki Goto, Atsuo Nakayama, Takeshi Nishiyama, Katsu Takahashi, Masatoshi Sana, Akiko Ota, Junichiro Machida, Toru Nagao, Yoshihito Tokita |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-07-01
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Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-021-00161-x |
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