Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant

C. Spagnoli, E. Pavlidis, G. G. Salerno, L. Koskinen, H. Kääriäinen, D. Frattini, J. W. Koskenvuo, C. Fusco

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)e45-e46
JournalEuropean Journal of Neurology
Issue number4
Publication statusPublished - Apr 1 2019


  • leucodystrophy
  • microcephaly
  • PYCR2

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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