Journal
HUMAN GENOME VARIATION
Volume 5, Issue -, Pages -Publisher
SPRINGERNATURE
DOI: 10.1038/s41439-018-0005-y
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Funding
- Japan Agency for Medical Research and Development (AMED) [17kk0205002]
- Japan Science and Technology Agency (JST) KAKENHI [17K10069]
- Naito Foundation
- Yokohama Foundation for Advancement of Medical Science
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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.
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