Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Published 2016 View Full Article

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Title
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency
Authors
Keywords
Pontocerebellar hypoplasia, SEPSECS, Selenoprotein biosynthesis deficiency, Optic nerve atrophy, Mitochondrial myopathy
Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 20, Issue 3, Pages 483-488
Publisher
Elsevier BV
Online
2016-01-11
DOI
10.1016/j.ejpn.2015.12.016

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