Article
Cobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.
Journal of neuroimaging : official journal of the American Society of Neuroimaging - 1 Jan 2000
Izzo Giana, Toto Valentina, Faiola Stefano, Cattaneo Elisa, Cavallari Ugo, Passarini Alice, Gladin Caroline Regna, Scelsa Barbara, Parazzini Cecilia, Righini Andrea
Abstract excerpt
BACKGROUND AND PURPOSE: Autosomal recessive cobblestone-like cortical malformation of the brain, with no eye or muscle involvement, has been reported in patients with biallelic mutations in ADGRG1 (formerly GPR56) and in other brain surface defects (eg, variants in COL3A1). We reported the intra-uterine brain MRI (iu-MRI), post-mortem MRI (pm-MRI), and neuropathology findings of a new ADGRG1 mutation in a fetus...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.