Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene-Reference-Cited by-同舟云学术

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Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene

Published:2015-05 Issue:5 Volume:135 Page:1450-1453
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Youssefian Leila,Vahidnezhad Hassan,Baghdadi Taghi,Ghaznavi Alireza,Li Qiaoli,Tabrizi Mina,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference15 articles.

1. The challenges of Proteus syndrome: diagnosis and management;Biesecker;Eur J Hum Genet,2006

2. A genomic view of mosaicism and human disease;Biesecker;Nat Rev Genet,2013

3. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin;Happle;J Am Acad Dermatol,1987

4. An activating mutation of AKT2 and human hypoglycemia;Hussain;Science,2011

5. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum;Keppler-Noreuil;Am J Med Genet A,2014

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2. Fibroadipose vascular anomaly successfully treated with sirolimus: experience in 3 children;Journal of Rare Diseases;2023-08-04

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4. The Klippel-Trénaunay Syndrome in 2022: Unravelling Its Genetic and Molecular Profile and Its Link to the Limb Overgrowth Syndromes;Vascular Health and Risk Management;2022-04

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