Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Àngels García-CazorlaEdgard VerduraNatalia Juliá-PalaciosEric N AndersonLeire GoicoecheaLaura Planas-SerraEnkhtuul TsogtbaatarNikita R DsouzaAgatha SchlüterRoser UrreiztiJessica M TarnowskiRalitza H Gavrilovanull nullMontserrat RuizAgustí Rodríguez-PalmeroStéphane FourcadeBenjamin CognéThomas BesnardMarie VincentStéphane BézieauClifford D FolmesMichael T ZimmermannEric W KleeUdai Bhan PandeyRafael ArtuchMargot A CousinAurora PujolPublished in: Acta neuropathologica (2020)