Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

Paul Kuentz,Camille Engel, Mathieu Laeng,Martin Chevarin,Yannis Duffourd, Jéhanne Martel,Juliette Piard,Fanny Morice-Picard,Helene Aubert,Didier Bessis,Anne-Marie Guerrot,Annabel Maruani,Olivia Boccara,Juliette Mazereeuw-Hautier, Hagen Ott,Alice Phan,Eve Puzenat,Chloe Quelin,Christel Thauvin-Robinet,Laurence Faivre,Pierre Vabres

The British journal of dermatology（2024）

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摘要

Here we report 19 additional mosaic PIK3R1 patients with clinical phenotyping, showing that the PIK3R1 phenotype is indistinguishable from the PIK3CA-related phenotypes, although the MCAP phenotype is consistently absent in PIK3R1 patients. We also report novel PIK3R1 variants. We consider that the meaning of PROS should shift from “PIK3CA-related overgrowth spectrum” to “PI3-kinase-related overgrowth spectrum”.

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