Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Published 2014 View Full Article

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Title
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 95, Issue 5, Pages 579-583
Publisher
Elsevier BV
Online
2014-10-16
DOI
10.1016/j.ajhg.2014.09.014

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