De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature.
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DOI: 10.1016/j.ejmg.2019.103825
Abstract: BACKGROUND The collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is… read more here.
Keywords: col4a1; late onset; case; mutation col4a1 ... See more keywords