Bi-allelic mutations in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts. (June 2017)

• Record Type: Journal Article
• Authors: Jansen, Anna C.; Vandervore, Laura; Tanyalçin, Ibrahim; Vanderhasselt, Tim; Roelens, Filip; Holder-Espinasse, Muriel; Jørgensen, Agnete; Pepin, Melanie G.; Petit, Florence; Van Kien, Philippe Khau; Bahi-Buisson, Nadia; Lissens, Willy; Gheldof, Alexander; Byers, Peter H.; Stouffs, Katrien
• Is Part Of: European journal of paediatric neurology. Volume 21(2017)Supplement 1
• Page Start: e61
• Publication Date: 2017-06
• Subjects: Pediatric neurology -- Periodicals; Nervous System Diseases -- Periodicals; Child -- Periodicals; Infant -- Periodicals; Neurologie pédiatrique -- Périodiques; Pediatric neurology; Electronic journals; Periodicals; Electronic journals; 618.928
• DOI: 10.1016/j.ejpn.2017.04.922
• Languages: English
• ISSNs: 1090-3798