Supplementary Material for PPP2R3C-Related Syndromic Gonadal Dysgenesis Case Report

figshare admin karger published supplementary material for a medical case report on PPP2R3C-related syndromic gonadal dysgenesis. The PDF file, 188.1 KB in size, details the diagnosis of two siblings via phenotype-driven reanalysis of whole-exome sequencing data. It was last updated on June 1, 2026.

Use Cases

• Reviewing clinical presentation details for PPP2R3C-related syndromic gonadal dysgenesis based on the case descriptions
• Studying the application of phenotype-driven WES reanalysis for unresolved syndromic DSD based on the described diagnostic approach
• Comparing phenotypic features across chromosomal sexes for this rare condition based on the reported 46,XY and 46,XX cases

Strengths

• The dataset is openly licensed under CC-BY-4.0.
• The file size is precisely documented as 188.1 KB.
• The last update timestamp is provided as 2026-06-01 07:14:44.

Limitations

• The dataset is a single 188.1 KB PDF file, indicating a very limited scope.
• Row count and column-level documentation are absent; data semantics must be inferred from the document.
• The description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Likely contains supplementary material for a published medical case report.

Freshness

Last updated 2026-06-01 07:14:44; freshness should be verified.