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Article

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.

Genes, chromosomes & cancer - 1 Nov 2022

Mussa Alessandro, Turchiano Antonella, Cardaropoli Simona, Coppo Paola, Pantaleo Antonino, Bagnulo Rosanna, Ranieri Carlotta, Iacoviello Matteo, Garganese Antonella, Stella Alessandro, Vallero Stefano Gabriele, Bertin Daniele, Santoro Federica, Carli Diana, Ferrero Giovanni Battista, Resta Nicoletta

Abstract excerpt

Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented molecular alterations in LOs mostly consist of somatic variants in genes of the PI3KCA/AKT/mTOR pathway or of chromosome band 11p15.5 imprinted region anomalies. In some cases, somatic pathogenic variants in genes of the RAS/MAPK pathway have been reported. We...

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PMID: 35778969
DOI: 10.1002/gcc.23086
PMCID: PMC9542063

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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