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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Veröffentlicht in:	Human genome variation 2017-06, Vol.4 (1), p.17021
Hauptverfasser:	Kato, Maki, Kato, Takema, Hosoba, Eriko, Ohashi, Masanao, Fujisaki, Midori, Ozaki, Mamoru, Yamaguchi, Masatoshi, Sameshima, Hiroshi, Kurahashi, Hiroki
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/1405 631/208/2489/1512 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Molecular Medicine
Online-Zugang:	Volltext
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