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Paper Details

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
69
2014
5q31, PURA, Pur-, developmental delay, encephalopathy, epilepsy, neonatal hypotonia, neurological, seizures
Author NameAffiliation
Seema R LalaniBaylor College of Medicine
Matthew PastoreNationwide Children's Hospital
Angus A WilfongBaylor College of Medicine
Mahshid S AzamianBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Eric BoerwinkleBaylor College of Medicine, University of Texas Health Science Center
Eric BoerwinkleBaylor College of Medicine, University of Texas Health Science Center
James R LupskiBaylor College of Medicine, Texas Children's Hospital
James R LupskiBaylor College of Medicine, Texas Children's Hospital
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Arthur L BeaudetBaylor College of Medicine
Yaping YangBaylor College of Medicine
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