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...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Adachi, Junya, Aoki, Yoshihiko, Tatematsu, Tadashi, Goto, Hiroki, Nakayama, Atsuo, Nishiyama, Takeshi, Takahashi, Katsu, Sana, Masatoshi, Ota, Akiko, Machida, Junichiro, Nagao, Toru, Tokita, Yoshihito
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8292458/
https://ncbi.nlm.nih.gov/pubmed/34285200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00161-x
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