GRM7-related disorder: Five additional patients from three independent families and review of the literature

We report here 5 patients from 3 independent families with biallelic variants in the GRM7 gene. We review the literature and provide further elements for the understanding of the genotype-phenotype correlation of this rare syndrome.PMID:38070825 | DOI:10.1016/j.ejmg.2023.104893

Source: European Journal of Medical Genetics - December 9, 2023 Category: Genetics & Stem Cells Authors: Louis Januel Nicolas Chatron Clotilde Rivier Ringenbach Sara Cabet Audrey Labalme Yavuz Sahin Hossein Darvish Michael Kruer Somayeh Bakhtiari Damien Sanlaville Jean Madeleine de Sainte Agathe Gaetan Lesca Source Type: research