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

Thumbnail
View/Open
Date
2019-02
Author
Low, KJ
Baptista, Julia cc
Babiker, M
Caswell, R
King, C
Ellard, S
Scurr, I
Subject
UBA5
 
Ataxia
 
Infantile-onset encephalopathy
 
Whole gene deletion
 

Metadata
Show full item record
URI
http://hdl.handle.net/10026.1/19171
DOI
Collections
Publisher
Elsevier BV
Place of Publication
Netherlands
Journal
European Journal of Medical Genetics
Volume
62
Issue
2
Pagination
97-102
Author URL
Recommended, similar items

The following license files are associated with this item:

All items in PEARL are protected by copyright law.
Author manuscripts deposited to comply with open access mandates are made available in accordance with publisher policies. Please cite only the published version using the details provided on the item record or document. In the absence of an open licence (e.g. Creative Commons), permissions for further reuse of content should be sought from the publisher or author.
PEARL Guides and Policies | PEARL Reports | Contact Us | Send Feedback | Admin Login
Theme by 
Atmire NV