%0 Journal Article
%T Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0005-y
%X 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
%U https://www.nature.com/articles/s41439-018-0005-y