Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

  • Tojo Nakayama
  • , Almundher Al-Maawali
  • , Malak El-Quessny
  • , Anna Rajab
  • , Samir Khalil
  • , Joan M. Stoler
  • , Wen Hann Tan
  • , Ramzi Nasir
  • , Klaus Schmitz-Abe
  • , R. Sean Hill
  • , Jennifer N. Partlow
  • , Muna Al-Saffar
  • , Sarah Servattalab
  • , Christopher M. Lacoursiere
  • , Dimira E. Tambunan
  • , Michael E. Coulter
  • , Princess C. Elhosary
  • , Grzegorz Gorski
  • , A. James Barkovich
  • , Kyriacos Markianos
  • Annapurna Poduri, Ganeshwaran H. Mochida

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Biochemistry, Genetics and Molecular Biology

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