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- W2802919209 abstract "Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy." @default.
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- W2802919209 date "2018-04-24" @default.
- W2802919209 modified "2023-10-12" @default.
- W2802919209 title "Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly" @default.
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- W2802919209 doi "https://doi.org/10.1038/s41439-018-0005-y" @default.
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