vascular Ehlers-Danlos syndrome

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
Laura Vandervore, Katrien Stouffs, Ibrahim Tanyalçin, Tim Vanderhasselt, Filip Roelens, Muriel Holder-Espinasse, Agnete Jørgensen, Melanie G Pepin, Florence Petit, Philippe Khau Van Kien, Nadia Bahi-Buisson, Willy Lissens, Alexander Gheldof, Peter H Byers, Anna C Jansen

Journal of Medical Genetics Jun 2017, 54 (6) 432-440; DOI: 10.1136/jmedgenet-2016-104421

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vascular Ehlers-Danlos syndrome