Associated Papers
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
Spangenberg L et al.
Molecular Genetics & Genomic Medicine, 2021
Neonatal PURA syndrome: a case report and literature review.
Liu Y et al.
Translational Pediatrics, 2021
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF et al.
Journal of Medical Genetics, 2018
29097605 (PubMed )
Supplement: jmedgenet-2017-104946supp001.pdf
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
28327206 (PubMed )
Supplement: 13073_2017_412_MOESM3_ESM.xlsx › Sheet1
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ et al.
Cold Spring Harbor Molecular Case Studies, 2015
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani SR et al.
American Journal of Human Genetics, 2014
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