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

Eur J Med Genet. 2019 Feb;62(2):97-102. doi: 10.1016/j.ejmg.2018.06.009. Epub 2018 Jun 12.

¹ Department of Clinical Genetics, St Michael's Hospital, Bristol, UK. Electronic address: Karen.low1@nhs.net.
² Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK; Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
³ Department of Paediatric Neurology, Bristol Royal Hospital for Children, UK.
⁴ Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
⁵ Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.

No abstract available

Keywords: Ataxia; Infantile-onset encephalopathy; UBA5; Whole gene deletion.

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