Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

SHMT2 Working Group

Research output: Contribution to journalLetterpeer-review

2 Scopus citations
Original languageEnglish (US)
Pages (from-to)971-975
Number of pages5
JournalActa neuropathologica
Issue number6
StatePublished - Dec 2020


  • Cardiomyopathy
  • Congenital microcephaly
  • Mitochondrial one-carbon metabolism
  • Perisylvian polymicrogyria
  • SHMT2

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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