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Published in 2022 at "Epilepsia Open"
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.…
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Keywords:
mutation related;
intracranial bleeding;
fetal intracranial;
col4a1 mutation ... See more keywords
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Published in 2018 at "Human Genome Variation"
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…
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Keywords:
col4a1;
col4a1 mutation;
novel col4a1;
mutation fetus ... See more keywords