The neurology of rhizomelic chondrodysplasia punctata

Published 2013 View Full Article

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Title
The neurology of rhizomelic chondrodysplasia punctata
Authors
Keywords
Rhizomelic chondrodysplasia punctata, Skeletal dysplasia, Peroxisome, Plasmalogen, Intellectual disability, Epilepsy, Evoked potentials
Journal
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 174
Publisher
Springer Nature
Online
2013-10-31
DOI
10.1186/1750-1172-8-174
References
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