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Article

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

American journal of medical genetics. Part A - 1 Feb 2015

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, Biesecker Leslie G

Abstract excerpt

Somatic activating mutations in the phosphatidylinositol-3-kinase/AKT/mTOR pathway underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme differences among patients, we sought to characterize the phenotypic spectrum associated with different genotypes and mutation burdens, including a better understanding of associated complications and natural history. Historically, the clinical diagnoses...

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Identifiers

PMID: 25557259
DOI: 10.1002/ajmg.a.36836
PMCID: PMC4480633

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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