Cobblestone-like brain malformation with a new bi-allelic ADGRG1 (GPR-56) mutation: Fetal imaging-pathology correlation.

Giana Izzo,Valentina Toto,Stefano Faiola,Elisa Cattaneo,Ugo Cavallari, Alice Passarini, Caroline Regna Gladin,Barbara Scelsa,Cecilia Parazzini,Andrea Righini

Journal of neuroimaging : official journal of the American Society of Neuroimaging（2023）

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摘要

Our findings provide further evidence of the overlap of ADGRG1/GPR56-related brain dysgenesis with cobblestone-like cortical malformation of the brain.

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关键词

ADGRG1 deficit,cobblestone-like malformation,fetal MRI,fetal neuropathology,neuronal overmigration,pial basement membrane defect,post-mortem MRI

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