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Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

24 Apr 2018

Abstract excerpt

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...

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PMID: 29760938
DOI: 10.1038/s41439-018-0005-y

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