Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum

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

doi:10.1002/ajmg.a.36552

Public

Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum

Published in American Journal of Medical Genetics Part A • Apr 29, 2014

Authors:

Kim M. Keppler‐Noreuil

Julie C. Sapp

Marjorie J. Lindhurst

Abstract

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, E...

Subject

Proteus syndrome

Macrocephaly

Lipomatosis

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