| Autor: |
Junya Adachi, Yoshihiko Aoki, Hiroto Izumi, Takeshi Nishiyama, Atsuo Nakayama, Masatoshi Sana, Kyoko Morimoto, Atsuo Kaetsu, Takamasa Shirozu, Eriko Osumi, Michiko Matsuoka, Eri Hayakawa, Nasel Maeda, Junichiro Machida, Toru Nagao, Yoshihito Tokita |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Human Genome Variation, Vol 10, Iss 1, Pp 1-3 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-023-00230-3 |
| Popis: |
Abstract Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this study, we identified a novel nonsense WNT10A variant, NM_025216.3(WNT10A_v001):c.1090A > T, which produces a C-terminal truncated gene product, p.(Lys364*), in a sporadic form of congenital tooth agenesis. The variant was not found in the healthy parents and thus was considered to cause congenital tooth agenesis in the case. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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