PIK3CA-related overgrowth spectrum

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term for rare syndromes characterized by malformations and tissue overgrowth caused by somatic mutations in PIK3CA gene.[1][2][3] In PROS diseases individuals malformations are seen in several different tissues such as skin, vasculature, bones, fat and brain tissue depending on the specific disease.

  1. ^ "PIK3CA-related overgrowth spectrum". rarediseases.info.nih.gov. National Institute of Health. Archived from the original on 2018-08-02. Retrieved 2018-10-03.
  2. ^ Keppler-Noreuil, Kim M.; Rios, Jonathan J.; Parker, Victoria E. R.; Semple, Robert K.; Lindhurst, Marjorie J.; Sapp, Julie C.; Alomari, Ahmad; Ezaki, Marybeth; Dobyns, William (2014-12-24). "PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation". American Journal of Medical Genetics. Part A. 167A (2): 287–295. doi:10.1002/ajmg.a.36836. ISSN 1552-4833. PMC 4480633. PMID 25557259.
  3. ^ "Classification | International Society for the Study of Vascular Anomalies". issva.org. Archived from the original on 2018-03-29. Retrieved 2018-09-23.
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