PURA-related neurodevelopmental disorders are characterised by moderate to severe
neurodevelopmental delay, and their morbidity rate is clinically low in children. We …

PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31. 3 microdeletion
syndrome and PURA syndrome. PURA has been proposed as a candidate gene …

Key Clinical Message This case report presents a child with PURA‐related
neurodevelopmental disorder, caused by the heterozygous pathogenic variant c. 175C> T …

Background PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31. 3
deletion syndrome and PURA syndrome. PURA-NDDs are characterized by neonatal …

In the process of neuronal development, the protein Purα (encoded by the PURA gene) is
essential for neuronal proliferation, dendritic maturation, and the transportation of mRNA to …

Purine-rich element-binding protein A (PURA) encodes Pur-alpha, a transcriptional activator
protein is crucial for normal brain development. Pathogenic variants in PURA are known to …

Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …

Variants in PURA have recently been associated with an autosomal dominant form of PURA-
related neurodevelopmental disorders. Using whole exome sequencing, patients with …

Purpose: Rare genetic variants in the PURA gene cause PURA-related neurodevelopmental
29 disorder (PURA-NDD), characterized by neonatal abnormalities and developmental …

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia,
feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent …