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Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Low, Karen J; Baptista, J; Babiker, M; Caswell, R; King, C; Ellard, S; Scurr, I.
Afiliación
  • Low KJ; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK. Electronic address: Karen.low1@nhs.net.
  • Baptista J; 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.
  • Babiker M; Department of Paediatric Neurology, Bristol Royal Hospital for Children, UK.
  • Caswell R; Institute for Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • King C; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
  • Ellard S; 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.
  • Scurr I; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK.
Eur J Med Genet ; 62(2): 97-102, 2019 Feb.
Article en En | MEDLINE | ID: mdl-29902590
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Discapacidades del Desarrollo / Mutación Missense / Enzimas Activadoras de Ubiquitina / Hemicigoto / Microcefalia Límite: Child, preschool / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Discapacidades del Desarrollo / Mutación Missense / Enzimas Activadoras de Ubiquitina / Hemicigoto / Microcefalia Límite: Child, preschool / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article