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: ohashi 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.