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

2.50
Hdl Handle:
http://hdl.handle.net/11287/620750
Title:
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.
Authors:
Low, K. J.; Baptista, Júlia; Babiker, M; Caswell, R; King, C; Ellard, Sian ( 0000-0002-7620-5526 ) ; Scurr, I
Citation:
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. 2018 Eur J Med Genet
Publisher:
Elsevier
Journal:
European journal of medical genetics
Issue Date:
12-Jun-2018
URI:
http://hdl.handle.net/11287/620750
DOI:
10.1016/j.ejmg.2018.06.009
PubMed ID:
29902590
Additional Links:
https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(18)30173-3
Type:
Case Report
Language:
en
ISSN:
1878-0849
Appears in Collections:
Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorLow, K. J.en
dc.contributor.authorBaptista, Júliaen
dc.contributor.authorBabiker, Men
dc.contributor.authorCaswell, Ren
dc.contributor.authorKing, Cen
dc.contributor.authorEllard, Sianen
dc.contributor.authorScurr, Ien
dc.date.accessioned2018-07-10T11:29:32Z-
dc.date.available2018-07-10T11:29:32Z-
dc.date.issued2018-06-12-
dc.identifier.citationHemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay. 2018 Eur J Med Geneten
dc.identifier.issn1878-0849-
dc.identifier.pmid29902590-
dc.identifier.doi10.1016/j.ejmg.2018.06.009-
dc.identifier.urihttp://hdl.handle.net/11287/620750-
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttps://linkinghub.elsevier.com/retrieve/pii/S1769-7212(18)30173-3en
dc.rightsArchived with thanks to European journal of medical geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleHemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.en
dc.typeCase Reporten
dc.identifier.journalEuropean journal of medical geneticsen
dc.type.versionIn press (epub ahead of print)en

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