Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
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DOI: 10.1136/jmedgenet-2016-104421
Abstract: Background Collagens are one of the major constituents of the pial membrane, which plays a crucial role in neuronal migration and cortical lamination during brain development. Type III procollagen, the chains of which are encoded… read more here.
Keywords: gpr56; cobblestone; malformation white; cobblestone like ... See more keywords