Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
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DOI: 10.1136/jmedgenet-2021-107971
Abstract: Background Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor (NMDAR). The aim of… read more here.
Keywords: pathogenic variants; overlapping cortical; grin1 grin2b; heterozygous variants ... See more keywords