Associated Papers
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W et al.
European Journal of Human Genetics : Ejhg, 2023
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
Expanding the neurodevelopmental phenotype of PURA syndrome.
Lee BH et al.
American Journal of Medical Genetics. Part A, 2018
Select a paper to view details