<p>This study was designed to determine the molecular etiology of disorders characterized by segmental overgrowth, vascular anomalies, or dermatologic conditions that are part of the diagnostic criteria for Proteus syndrome or <a href="https://www.ncbi.nlm.nih.gov/gene/5290">PIK3CA</a>-related overgrowth spectrum (PROS). Somatic variants in <a href="https://www.ncbi.nlm.nih.gov/gene/207">AKT1</a> or PIK3CA have been identified as causative for Proteus syndrome and PROS respectively, and this study aimed to determine the extent of allelic and genetic heterogeneity in individuals who fully met the diagnostic criteria, had some aspects of, or had isolated manifestations of either syndrome. </p>

Segmental Overgrowth/Vascular Anomalies/Dermatologic Disorders

Proteus Syndrome study with SNP Genotypes (NGS), Targeted-Capture data on dbGaP (27 participants)

Segmental Overgrowth/Vascular Anomalies/Dermatologic Disorders

Description

Applying For Access

Summary