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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… Click to show full 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 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.
Keywords:
col4a1;
col4a1 mutation;
novel col4a1;
mutation fetus;
fetus early;
mutation
Journal Title: Human Genome Variation
Year Published: 2018
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Journal Title: Human Genome Variation
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!