Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

doi:10.1002/ajmg.a.36552

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Article

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.

American journal of medical genetics. Part A - 1 Jul 2014

Keppler-Noreuil Kim M, Sapp Julie C, Lindhurst Marjorie J, Parker Victoria E R, Blumhorst Cathy, Darling Thomas, Tosi Laura L, Huson Susan M, Whitehouse Richard W, Jakkula Eveliina, Grant Ian, Balasubramanian Meena, Chandler Kate E, Fraser Jamie L, Gucev Zoran, Crow Yanick J, Brennan Leslie Manace, Clark Robin, Sellars Elizabeth A, Pena Loren D M, Krishnamurty Vidya, Shuen Andrew, Braverman Nancy, Cunningham Michael L, Sutton V Reid, Tasic Velibor, Graham John M, Geer Joseph, Henderson Alex, Semple Robert K, Biesecker Leslie G

Abstract excerpt

Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome,...

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PMID: 24782230
DOI: 10.1002/ajmg.a.36552
PMCID: PMC4320693

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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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