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Article

PIK3CA Mutational Analysis in Patients With Macrodactyly.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Becker Jakob, Gross Ulrike Camenisch, Weber Daniel M, Weibel Lisa, Theiler Martin, Brandt Simone, Bode Peter K

Abstract excerpt

BACKGROUND: Somatic mosaicism for PIK3CA mutations causes various types of growth disorders, which have been summarized under the term PROS (PIK3CA related overgrowth spectrum). Targeted therapy with PI3K inhibitors seems to be a promising alternative for severe PROS cases. Therefore, PIK3CA testing may become more relevant in the future. METHODS: We report on 14 PROS patients, who had surgery for macrodactyly in...

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PMID: 36314082
DOI: 10.1177/10935266221080155

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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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PIK3CA Mutational Analysis in Patients With Macrodactyly.PMID 36314082Read ↗

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Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.Semantic proximity Read ↗

Insights into the pathogenesis of macrodactyly.Semantic proximity Read ↗

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

Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delaySemantic proximity Read ↗

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.Semantic proximity Read ↗

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.Semantic proximity Read ↗

PIK3CA-related overgrowth with an uncommon phenotype: case report.Semantic proximity Read ↗

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.Semantic proximity Read ↗

Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.Semantic proximity Read ↗

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