Associated Papers
A novel frameshift variant in PURA syndrome: role of NMD pathway in disease mechanism.
Yang H et al.
Gene, 2026
Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.
Liu SN et al.
Orphanet Journal of Rare Diseases, 2025
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Hildebrand MS et al.
Neurology. Genetics, 2024
PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
Proske M et al.
Elife, 2024
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
Panigrahi I et al.
Case Reports in Genetics, 2024
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.
Jia X et al.
Science Advances, 2022
35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM et al.
Neurology. Genetics, 2021
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.
Cinquina V 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
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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