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

By: Contributor(s): Producer: 20190315Description: 97-102 p. digitalISSN:
  • 1878-0849
Subject(s): Online resources: In: European journal of medical genetics vol. 62
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Publication Type: Case Reports; Journal Article

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