Article
Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.
Journal of medical genetics - 1 Jun 2017
Vandervore Laura, Stouffs Katrien, Tanyalçin Ibrahim, Vanderhasselt Tim, Roelens Filip, Holder-Espinasse Muriel, Jørgensen Agnete, Pepin Melanie G, Petit Florence, Khau Van Kien Philippe, Bahi-Buisson Nadia, Lissens Willy, Gheldof Alexander, Byers Peter H, Jansen Anna C
Abstract excerpt
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 by COL3A1, is the ligand of the G protein-coupled receptor 56 (GPR56), also known as adhesion G protein-coupled receptor G1. Bi-allelic mutations in GPR56 give rise to cobblestone-like...
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