A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Marie-Laure VuillaumeMédéric JeanneLi XueSophie BlessonAnne Sophie Denommé-PichonServane AlirolCéline BrulardEstelle ColinBertrand IsidorBrigitte Gilbert-DussardierSylvie OdentPhilippe ParentAudrey DonnartRichard RedonStéphane BézieauPhilippe RondardFrédéric LaumonnierAnnick ToutainPublished in: Annals of neurology (2018)
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