COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria
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DOI: 10.1002/epi4.12681
Abstract: Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in COL4A1.… read more here.
Keywords: mutation related; intracranial bleeding; fetal intracranial; col4a1 mutation ... See more keywords
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
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DOI: 10.1038/s41439-018-0005-y
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… read more here.
Keywords: col4a1; col4a1 mutation; novel col4a1; mutation fetus ... See more keywords