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

Authors :: Katrien Stouffs
Nadia Bahi-Buisson
Filip Roelens
Anna Jansen
Peter H. Byers
Agnete Jørgensen
Ibrahim Tanyalcin
Philippe Khau Van Kien
Florence Petit
Tim Vanderhasselt
Alexander Gheldof
Laura Vandervore
Willy Lissens
Melanie Pepin
Muriel Holder-Espinasse
Source :: European Journal of Paediatric Neurology. 21:e61
Publication Year :: 2017
Publisher :: Elsevier BV, 2017.

Subjects :: Pathology
medicine.medical_specialty
GPR56
Pediatrics, Perinatology and Child Health
Cerebellar cysts
medicine
Neurology (clinical)
General Medicine
Allele
Biology
Ligand (biochemistry)
White matter changes

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