Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic review.

ABSTRACT:

Background

The focus of this study was a comparison of the phenotypical and genotypical differences in PURA syndrome among Asian and non-Asian patients. A retrospective cohort study was performed in a single medical center from January 2014 to May 2025 on patients carrying causative genes for PURA syndrome. A systematic search in PubMed, MEDLINE, Web of Science, and Embase covering the period from January 2014 to May 2025 was conducted. Individuals with PURA syndrome were collected and categorized into Asian and non-Asian groups for analysis. Clinical characteristics, imaging findings, and developmental outcomes were compared between the two groups using Chi-squared or Fisher's exact tests, with a p < 0.05 considered statistically significant.

Results

Of 200 individuals enro

SUBMITTER: Liu SN 

PROVIDER: S-EPMC12297800 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature