Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay

  • Karen J. Low*
  • , J. Baptista
  • , M. Babiker
  • , R. Caswell
  • , C. King
  • , S. Ellard
  • , I. Scurr
    • *Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology

Neuroscience