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PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene.
Kato M, Kato T, Hosoba E, Ohashi M, Fujisaki M, Ozaki M, Yamaguchi M, Sameshima H, Kurahashi H. Kato M, et al. Among authors: ozaki m. Hum Genome Var. 2017 Jun 8;4:17021. doi: 10.1038/hgv.2017.21. eCollection 2017. Hum Genome Var. 2017. PMID: 28611924 Free PMC article.
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H. Kato T, et al. Among authors: ozaki m. Hum Genet. 2020 Nov;139(11):1417-1427. doi: 10.1007/s00439-020-02186-8. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488466
1,674 results