COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis.
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DOI: 10.1016/j.pediatrneurol.2016.04.010
Abstract: BACKGROUND COL4A1 on chromosome 13q34 encodes the alpha 1 chain of type IV collagen, a component of basal membranes. It is expressed mainly in the brain, muscles, kidneys, and eyes. COL4A1 mutations can remain asymptomatic… read more here.
Keywords: segment dysgenesis; anterior segment; stroke anterior; intrauterine stroke ... See more keywords