PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report-Reference-Cited by-同舟云学术

PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report

Published:2018-06-02 Issue:7 Volume:6 Page:1358-1363
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Valentini Virginia¹,Zelli Veronica¹,Rizzolo Piera¹,Silvestri Valentina¹,Alimandi Maurizio²,D'Aloia Maria Michela²,Giustini Sandra³,Calvieri Stefano³,Richetta Antonio Giovanni³,Monteleone Giovanni⁴,Ottini Laura¹^ORCID

Affiliation:

1. Department of Molecular Medicine; Sapienza University of Rome; Rome Italy

2. Department of Clinical and Molecular Medicine; Sapienza University of Rome; Rome Italy

3. Department of Internal Medicine and Medical Specialties; Unit of Dermatology; Sapienza University of Rome; Rome Italy

4. Department of Biomedicine and Prevention; University of Rome Tor Vergata; Rome Italy

Funder

Associazione Italiana per la Ricerca sul Cancro

Publisher

Wiley

Subject

General Medicine

Reference23 articles.

1. Molecular mechanisms of childhood overgrowth;Tatton-Brown;Am. J. Med. Genet. C Semin. Med. Genet.,2013

2. A mosaic activating mutation in AKT1 associated with the Proteus syndrome;Lindhurst;N. Engl. J. Med.,2011

3. Fibroadipose hyperplasia versus Proteus syndrome: segmental overgrowth with a mosaic mutation in the PIK3CA gene;Youssefian;J. Invest. Dermatol.,2015

4. Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway;Nathan;Dermatol. Clin.,2017

5. Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies;Keppler-Noreuil;Am. J. Med. Genet. C Semin. Med. Genet.,2016

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1. A Mosaic PIK3CA Mutation in a Moroccan Female: Exploring the Diagnostic Challenges of PIK3CA-Related Overgrowth Spectrum;Cureus;2023-04-01

2. Surgical management for isolated macrodactyly in an adult PIK3CA mutant;JPRAS Open;2020-12

3. Focal Fibroadipose Overgrowth of the Forehead: A Case Report;Asploro Journal of Biomedical and Clinical Case Reports;2020-11-14

4. Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes;Molecular Case Studies;2019-08