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

Keppler-Noreuil, K.M., Sapp, J.C., Lindhurst, M.J. et al. (28 more authors) (2014) Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A, 164A (7). pp. 1713-1733. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
  • Keppler-Noreuil, K.M.
  • Sapp, J.C.
  • Lindhurst, M.J.
  • Parker, V.E.
  • Blumhorst, C.
  • Darling, T.
  • Tosi, L.L.
  • Huson, S.M.
  • Whitehouse, R.W.
  • Jakkula, E.
  • Grant, I.
  • Balasubramanian, M. https://orcid.org/0000-0003-1488-3695
  • Chandler, K.E.
  • Fraser, J.L.
  • Gucev, Z.
  • Crow, Y.J.
  • Brennan, L.M.
  • Clark, R.
  • Sellars, E.A.
  • Pena, L.D.
  • Krishnamurty, V.
  • Shuen, A.
  • Braverman, N.
  • Cunningham, M.L.
  • Sutton, V.R.
  • Tasic, V.
  • Graham, J.M.
  • Geer, J.
  • Henderson, A.
  • Semple, R.K.
  • Biesecker, L.G.
Copyright, Publisher and Additional Information: © 2014 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made
Keywords: CLOVES syndrome; PIK3CA gene; fibroadipose overgrowth; macrodactyly; segmental overgrowth; somatic mosaicism; Adipose Tissue; Adolescent; Adult; Age of Onset; Child; Child, Preschool; Female; Genetic Association Studies; Genotype; Humans; Hyperplasia; Infant; Infant, Newborn; Lipoma; Male; Middle Aged; Musculoskeletal Abnormalities; Mutation; Nevus; Organ Specificity; Phenotype; Phosphatidylinositol 3-Kinases; Vascular Malformations; Young Adult
Dates:
  • Published: 29 April 2014
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 14 Jul 2016 14:04
Last Modified: 14 Jul 2016 14:04
Published Version: http://dx.doi.org/10.1002/ajmg.a.36552
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.36552
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