11 Cinquina Cinquina V V Ciaccio Ciaccio C C Venturini Venturini M M Masson Masson R R Ritelli Ritelli M M Colombi Colombi M M Expanding the PURA syndrome phenotype: A child with the recurrent PURA (p.Phe233del) pathogenic variant showing similarities with cutis laxa Expanding the PURA syndrome phenotype: A child with the recurrent PURA (p.Phe233del) pathogenic variant showing similarities with cutis laxa Mol Genet Genomic Med Mol Genet Genomic Med 2021 2021 9 9 e1562 e1562 10.1002/mgg3.1562 10.1002/mgg3.1562 33275834 33275834. The gene discussed is PURA; the disease is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.