Links
[1] https://disorders.eyes.arizona.edu/references/expanding-neurodevelopmental-phenotype-pura-syndrome
[2] https://disorders.eyes.arizona.edu/references/de-novo-mutations-pura-are-associated-hypotonia-and-developmental-delay
[3] https://disorders.eyes.arizona.edu/references/mutations-pura-cause-profound-neonatal-hypotonia-seizures-and-encephalopathy-5q313
[4] https://disorders.eyes.arizona.edu/references/whole-exome-sequencing-family-trios-reveals-de-novo-mutations-pura-cause-severe