Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Alessandro Mussa Chiara LeoniMatteo IacovielloDiana Carli Carlotta RanieriAntonino PantaleoPaola Sabrina BuonuomoRosanna BagnuloGiovanni Battista FerreroAndrea BartuliDaniela MelisSilvia MaitzDaria Carmela LoconteAntonella TurchianoMarilidia PiglionicaAnnunziata De LuisiFrancesco Claudio SuscaNenad BukvicCinzia ForleoAngelo SelicorniGiuseppe ZampinoRoberta OnesimoGerarda CappuccioLivia GaravelliChiara NovelliLuigi MemoCarla MorandoMatteo Della MonicaMaria AccadiaMartina CapursoCarmelo PiscopoAnna CeredaMarilena Carmela Di GiacomoVeronica SalettiAlessandro Mauro SpinelliPatrizia LastellaRomano TenconiVeronika DvorakovaAlan D IrvineNicoletta Resta

Published in: Journal of medical genetics (2022)

Keyphrases

systematic review
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
single cell
copy number
protein kinase
dna methylation