Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report

Author:

Denorme Pieter1ORCID,Morren Marie-Anne1,Hollants Silke2,Spaepen Marijke2,Suaer Kate3,Zutterman Nele4,Labarque Veerle5,Legius Eric26,Brems Hilde6

Affiliation:

1. Department of Dermatology, Microbiology, and Immunology; Universitaire Ziekenhuizen Leuven; Leuven Belgium

2. Department of Human Genetics; Universitaire Ziekenhuizen Leuven; Leuven Belgium

3. Department of Paediatric Medicine; AZ Sint-Jan; Brugge Belgium

4. Department of Dermatology; AZ Sint-Lucas; Brugge Belgium

5. Department of Paediatric Medicine; Universitaire Ziekenhuizen Leuven; Leuven Belgium

6. Department of Human Genetics; Katholieke Universiteit Leuven; Leuven Belgium

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Reference5 articles.

1. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation;Keppler-Noreuil;Am J Med Genet A,2014

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

3. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients;Sapp;Am J Med Genet A,2007

4. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP;Mirzaa;Am J Med Genet C Semin Med Genet,2013

5. Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies;Adams;Pediatrics,2016

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