PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene

We report a case of premature chromatid separation/mosaic variegated aneuploidy syndrome identified by microcephaly on fetal ultrasound and confirmed by cytogenetic analysis of amniotic fluid. Initial mutational analysis of the entire coding region of the BUB1B gene failed to identify any causative...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Kato, Maki, Kato, Takema, Hosoba, Eriko, Ohashi, Masanao, Fujisaki, Midori, Ozaki, Mamoru, Yamaguchi, Masatoshi, Sameshima, Hiroshi, Kurahashi, Hiroki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5462940/
https://ncbi.nlm.nih.gov/pubmed/28611924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.21
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